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| Ichthyosis and erythrokeratoderma v4.17 | SMARCAD1 |
Ida Ertmanska changed review comment from: HURIEZ SYNDROME PMID: 35212137 Loh et al., 2022 Report of 3 Huriez syndrome (HRZ) families from Croatia, the Netherlands, and Germany. All seven HRZ patients displayed hypohidrosis, adermatoglyphia, and one patient developed squamous cell carcinoma at 32 years of age. PMID: 33400266 Loh et al., 2021 Report of a large pedigree with Huriez syndrome, caused by a large deletion that abrogates the skin‐specific isoform of SMARCAD1 Affected patients had evidence of scleroatrophy of the hands, some with subtle tapering of the fingers. There was ridging and hypoplasia of the nails. There was mild hyperkeratosis of the palms. On the soles of the feet, focal hyperkeratosis was seen. Good segregation evidence: NC_000004.12:g.94252297_94253585del was present in sampled affected individuals (n = 7) and was absent in unaffected individuals (n = 2). PMID: 29409814 Günther et al., 2018 Report of 3 families with Huriez syndrome (congenital palmoplantar keratosis, scleroatrophic changes of the hands and feet, and an increased risk for cutaneous squamous cell carcinoma). SMARCAD1 variants in the skin specific isoform were highlighted : c.378+2T>C in family A, SMARCAD1 c.378+2_3insT in Family B, and c.363_378+2del in family C. BASAN SYNDROME: PMID: 34909722 Elhaji et al., 2021 Report of 2 families (Canadian and Dutch) with Basan syndrome: Dutch family: mother and 2 children affected. Mother presented to dermatology clinic at 39 yrs - examination showed adermatoglyphia, hypohidrosis, tapered fingertips, painful palmoplantar punctate keratoderma and punctate hyperkeratosis. She had transient milia at birth. Onychorrhexis with deep longitudinal ridges and Beau lines were also seen. Her children, aged 7yrs and 10yrs, were similarly affected. In addition, callosities were observed on their palms, wrists, and soles of the feet. No other abnormalities regarding their hair, mouth, or teeth were identified. Variant c.374_378+7del was identified in SMARCAD1 short isoform. Canadian family: total 12 individuals affected, with a clear dominant inheritance pattern. All 12 had adermatoglyphia, multiple transient milia on the face, and suffered from lack of sweat and susceptibility to heat strokes. 4/12 had webbed fingers. Proband twin neonates developed blistering near the ankles at birth that healed within days. Normal nails, hair, teeth, and skin pigmentation in all patients. Complex rearrangement was identified in this family, including a deletion of ~50.9 kb and an inverted duplication of ~23.4 kb. The deletion encompasses exons 1‒9 of SMARCAD1 long isoform and exon 1 of the short isoform and includes the first exon of the long noncoding RNA (LOC101929210). PMID: 30289605 Valentin et al., 2018 Case report of a 10 day old male with bilateral heel erosions, which had been bullae at birth. He developed no further bullae or erosions. He was also noted to have innumerable congenital milia around the face, adermatoglyphia of his finger and toes, onychorrhexis, hyperpigmented macules on the hands and feet, and a waxy keratoderma with fine wrinkling of the palms and soles. No hair or teeth anomalies present. Proaband was het for NM_001254949.1:c.-10 + 2 T > G, in the donor splice site of exon 1 of the skin-specific isoform. PMID: 26932190 Li et al., 2016 Chinese family with Basan syndrome. Some patients presented with hyperpigmentation and knuckle pads in addition to classical symptoms of rapidly healing congenital acral bullae, congenital milia and lack of fingerprints. Hair, eyebrows, eyelashes, teeth and nails were all normal. Hypohidrosis was also noted in all 8 affected individuals. Hyperpigmentation was noted in 5/8 patients, and contractures were seen in all 8 individuals, though only mild in 5. WGS of the proband identified a heterozygous c.378+1G>T variant in SMARCAD1 (same as in PMID: 21820097). Variant co-segregated with disease, maximal LOD score was 3.01. NON-SYNDROMIC ADERMATOGLYPHIA: PMID: 32769257 Alruwaili & Hai, 2019 Report of a 60yo Saudi Arabian man with isolated adermatoglyphia, het for c.378+1G>T in SMARCAD1 short isoform. PMID: 24909267 Nousbeck et al., 2014 3 families with isolated adermatoglyphia and heterozygous mutations in SMARCAD1 (c.378 + 2T > C, c.378 + 5G > C and c.378 + 1G > A) PMID: 21820097 Nousbeck et al., 2011 Report of a large Swiss kindred presenting with autosomal-dominant adermatoglyphia (9 affected, 7 unaffected). Linkage analysis gave a LOD score of 2.85. Sequencing detected a heterozygous variant in the skin-specific SMARCAD1 short isoform: c.378+1G>T. N.B.: PMID: 35592705 Xiong et al., 2022 - Basan syndrome family; ARTICLE RETRACTED SMARCAD1 is associated with AD Adermatoglyphia, MIM:136000; AD Basan syndrome, MIM:129200; AD Huriez syndrome, MIM:181600 (OMIM accessed 28th Aug 2026).; to: HURIEZ SYNDROME PMID: 35212137 Loh et al., 2022 Report of 3 Huriez syndrome (HRZ) families from Croatia, the Netherlands, and Germany. All seven HRZ patients displayed hypohidrosis, adermatoglyphia, and one patient developed squamous cell carcinoma at 32 years of age. Family 1 - proband had mild hyperkeratosis of soles, thin palmar skin, and weak, pointed nails. Sanger seq revealed a heterozygous 11-bp deletion in SMARCAD1: g.94253671_94253682del. Family 2 - male proband presented with scleroatrophy of hands, contracture of the little finger, sclerodactyly of distal extremities, hypoplastic nails, hypohidrosis. Proband and his affected mother were both het for a deletion affecting the SMARCAD1 donor splice site: g.94253673del Family 3 - case previously described in PMID: 8731679 Hamm, 1996 and PMID: 29409814 Günther et al., 2018 PMID: 33400266 Loh et al., 2021 Report of a large pedigree with Huriez syndrome, caused by a large deletion that abrogates the skin‐specific isoform of SMARCAD1 Affected patients had evidence of scleroatrophy of the hands, some with subtle tapering of the fingers. There was ridging and hypoplasia of the nails. There was mild hyperkeratosis of the palms. On the soles of the feet, focal hyperkeratosis was seen. Good segregation evidence: NC_000004.12:g.94252297_94253585del was present in sampled affected individuals (n = 7) and was absent in unaffected individuals (n = 2). PMID: 29409814 Günther et al., 2018 Report of 3 families with Huriez syndrome (congenital palmoplantar keratosis, scleroatrophic changes of the hands and feet, and an increased risk for cutaneous squamous cell carcinoma). SMARCAD1 variants in the skin specific isoform were highlighted : c.378+2T>C in family A, SMARCAD1 c.378+2_3insT in Family B, and c.363_378+2del in family C. BASAN SYNDROME: PMID: 34909722 Elhaji et al., 2021 Report of 2 families (Canadian and Dutch) with Basan syndrome: Dutch family: mother and 2 children affected. Mother presented to dermatology clinic at 39 yrs - examination showed adermatoglyphia, hypohidrosis, tapered fingertips, painful palmoplantar punctate keratoderma and punctate hyperkeratosis. She had transient milia at birth. Onychorrhexis with deep longitudinal ridges and Beau lines were also seen. Her children, aged 7yrs and 10yrs, were similarly affected. In addition, callosities were observed on their palms, wrists, and soles of the feet. No other abnormalities regarding their hair, mouth, or teeth were identified. Variant c.374_378+7del was identified in SMARCAD1 short isoform. Canadian family: total 12 individuals affected, with a clear dominant inheritance pattern. All 12 had adermatoglyphia, multiple transient milia on the face, and suffered from lack of sweat and susceptibility to heat strokes. 4/12 had webbed fingers. Proband twin neonates developed blistering near the ankles at birth that healed within days. Normal nails, hair, teeth, and skin pigmentation in all patients. Complex rearrangement was identified in this family, including a deletion of ~50.9 kb and an inverted duplication of ~23.4 kb. The deletion encompasses exons 1‒9 of SMARCAD1 long isoform and exon 1 of the short isoform and includes the first exon of the long noncoding RNA (LOC101929210). PMID: 30289605 Valentin et al., 2018 Case report of a 10 day old male with bilateral heel erosions, which had been bullae at birth. He developed no further bullae or erosions. He was also noted to have innumerable congenital milia around the face, adermatoglyphia of his finger and toes, onychorrhexis, hyperpigmented macules on the hands and feet, and a waxy keratoderma with fine wrinkling of the palms and soles. No hair or teeth anomalies present. Proaband was het for NM_001254949.1:c.-10 + 2 T > G, in the donor splice site of exon 1 of the skin-specific isoform. PMID: 26932190 Li et al., 2016 Chinese family with Basan syndrome. Some patients presented with hyperpigmentation and knuckle pads in addition to classical symptoms of rapidly healing congenital acral bullae, congenital milia and lack of fingerprints. Hair, eyebrows, eyelashes, teeth and nails were all normal. Hypohidrosis was also noted in all 8 affected individuals. Hyperpigmentation was noted in 5/8 patients, and contractures were seen in all 8 individuals, though only mild in 5. WGS of the proband identified a heterozygous c.378+1G>T variant in SMARCAD1 (same as in PMID: 21820097). Variant co-segregated with disease, maximal LOD score was 3.01. NON-SYNDROMIC ADERMATOGLYPHIA: PMID: 32769257 Alruwaili & Hai, 2019 Report of a 60yo Saudi Arabian man with isolated adermatoglyphia, het for c.378+1G>T in SMARCAD1 short isoform. PMID: 24909267 Nousbeck et al., 2014 3 families with isolated adermatoglyphia and heterozygous mutations in SMARCAD1 (c.378 + 2T > C, c.378 + 5G > C and c.378 + 1G > A) PMID: 21820097 Nousbeck et al., 2011 Report of a large Swiss kindred presenting with autosomal-dominant adermatoglyphia (9 affected, 7 unaffected). Linkage analysis gave a LOD score of 2.85. Sequencing detected a heterozygous variant in the skin-specific SMARCAD1 short isoform: c.378+1G>T. N.B.: PMID: 35592705 Xiong et al., 2022 - Basan syndrome family; ARTICLE RETRACTED SMARCAD1 is associated with AD Adermatoglyphia, MIM:136000; AD Basan syndrome, MIM:129200; AD Huriez syndrome, MIM:181600 (OMIM accessed 28th Aug 2026). |
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| Ichthyosis and erythrokeratoderma v4.17 | SMARCAD1 |
Ida Ertmanska changed review comment from: HURIEZ SYNDROME PMID: 33400266 Loh et al., 2021 Report of a large pedigree with Huriez syndrome, caused by a large deletion that abrogates the skin‐specific isoform of SMARCAD1 Affected patients had evidence of scleroatrophy of the hands, some with subtle tapering of the fingers. There was ridging and hypoplasia of the nails. There was mild hyperkeratosis of the palms. On the soles of the feet, focal hyperkeratosis was seen. Good segregation evidence: NC_000004.12:g.94252297_94253585del was present in sampled affected individuals (n = 7) and was absent in unaffected individuals (n = 2). PMID: 29409814 Günther et al., 2018 Report of 3 families with Huriez syndrome (congenital palmoplantar keratosis, scleroatrophic changes of the hands and feet, and an increased risk for cutaneous squamous cell carcinoma). SMARCAD1 variants in the skin specific isoform were highlighted : c.378+2T>C in family A, SMARCAD1 c.378+2_3insT in Family B, and c.363_378+2del in family C. BASAN SYNDROME: PMID: 34909722 Elhaji et al., 2021 Report of 2 families (Canadian and Dutch) with Basan syndrome: Dutch family: mother and 2 children affected. Mother presented to dermatology clinic at 39 yrs - examination showed adermatoglyphia, hypohidrosis, tapered fingertips, painful palmoplantar punctate keratoderma and punctate hyperkeratosis. She had transient milia at birth. Onychorrhexis with deep longitudinal ridges and Beau lines were also seen. Her children, aged 7yrs and 10yrs, were similarly affected. In addition, callosities were observed on their palms, wrists, and soles of the feet. No other abnormalities regarding their hair, mouth, or teeth were identified. Variant c.374_378+7del was identified in SMARCAD1 short isoform. Canadian family: total 12 individuals affected, with a clear dominant inheritance pattern. All 12 had adermatoglyphia, multiple transient milia on the face, and suffered from lack of sweat and susceptibility to heat strokes. 4/12 had webbed fingers. Proband twin neonates developed blistering near the ankles at birth that healed within days. Normal nails, hair, teeth, and skin pigmentation in all patients. Complex rearrangement was identified in this family, including a deletion of ~50.9 kb and an inverted duplication of ~23.4 kb. The deletion encompasses exons 1‒9 of SMARCAD1 long isoform and exon 1 of the short isoform and includes the first exon of the long noncoding RNA (LOC101929210). PMID: 30289605 Valentin et al., 2018 Case report of a 10 day old male with bilateral heel erosions, which had been bullae at birth. He developed no further bullae or erosions. He was also noted to have innumerable congenital milia around the face, adermatoglyphia of his finger and toes, onychorrhexis, hyperpigmented macules on the hands and feet, and a waxy keratoderma with fine wrinkling of the palms and soles. No hair or teeth anomalies present. Proaband was het for NM_001254949.1:c.-10 + 2 T > G, in the donor splice site of exon 1 of the skin-specific isoform. PMID: 26932190 Li et al., 2016 Chinese family with Basan syndrome. Some patients presented with hyperpigmentation and knuckle pads in addition to classical symptoms of rapidly healing congenital acral bullae, congenital milia and lack of fingerprints. Hair, eyebrows, eyelashes, teeth and nails were all normal. Hypohidrosis was also noted in all 8 affected individuals. Hyperpigmentation was noted in 5/8 patients, and contractures were seen in all 8 individuals, though only mild in 5. WGS of the proband identified a heterozygous c.378+1G>T variant in SMARCAD1 (same as in PMID: 21820097). Variant co-segregated with disease, maximal LOD score was 3.01. NON-SYNDROMIC ADERMATOGLYPHIA: PMID: 24909267 Nousbeck et al., 2014 3 families with isolated adermatoglyphia and heterozygous mutations in SMARCAD1 (c.378 + 2T > C, c.378 + 5G > C and c.378 + 1G > A) PMID: 21820097 Nousbeck et al., 2011 Report of a large Swiss kindred presenting with autosomal-dominant adermatoglyphia (9 affected, 7 unaffected). Linkage analysis gave a LOD score of 2.85. Sequencing detected a heterozygous variant in the skin-specific SMARCAD1 short isoform: c.378+1G>T. N.B.: PMID: 35592705 Xiong et al., 2022 - Basan syndrome family; ARTICLE RETRACTED SMARCAD1 is associated with AD Adermatoglyphia, MIM:136000; AD Basan syndrome, MIM:129200; AD Huriez syndrome, MIM:181600 (OMIM accessed 28th Aug 2026).; to: HURIEZ SYNDROME PMID: 35212137 Loh et al., 2022 Report of 3 Huriez syndrome (HRZ) families from Croatia, the Netherlands, and Germany. All seven HRZ patients displayed hypohidrosis, adermatoglyphia, and one patient developed squamous cell carcinoma at 32 years of age. PMID: 33400266 Loh et al., 2021 Report of a large pedigree with Huriez syndrome, caused by a large deletion that abrogates the skin‐specific isoform of SMARCAD1 Affected patients had evidence of scleroatrophy of the hands, some with subtle tapering of the fingers. There was ridging and hypoplasia of the nails. There was mild hyperkeratosis of the palms. On the soles of the feet, focal hyperkeratosis was seen. Good segregation evidence: NC_000004.12:g.94252297_94253585del was present in sampled affected individuals (n = 7) and was absent in unaffected individuals (n = 2). PMID: 29409814 Günther et al., 2018 Report of 3 families with Huriez syndrome (congenital palmoplantar keratosis, scleroatrophic changes of the hands and feet, and an increased risk for cutaneous squamous cell carcinoma). SMARCAD1 variants in the skin specific isoform were highlighted : c.378+2T>C in family A, SMARCAD1 c.378+2_3insT in Family B, and c.363_378+2del in family C. BASAN SYNDROME: PMID: 34909722 Elhaji et al., 2021 Report of 2 families (Canadian and Dutch) with Basan syndrome: Dutch family: mother and 2 children affected. Mother presented to dermatology clinic at 39 yrs - examination showed adermatoglyphia, hypohidrosis, tapered fingertips, painful palmoplantar punctate keratoderma and punctate hyperkeratosis. She had transient milia at birth. Onychorrhexis with deep longitudinal ridges and Beau lines were also seen. Her children, aged 7yrs and 10yrs, were similarly affected. In addition, callosities were observed on their palms, wrists, and soles of the feet. No other abnormalities regarding their hair, mouth, or teeth were identified. Variant c.374_378+7del was identified in SMARCAD1 short isoform. Canadian family: total 12 individuals affected, with a clear dominant inheritance pattern. All 12 had adermatoglyphia, multiple transient milia on the face, and suffered from lack of sweat and susceptibility to heat strokes. 4/12 had webbed fingers. Proband twin neonates developed blistering near the ankles at birth that healed within days. Normal nails, hair, teeth, and skin pigmentation in all patients. Complex rearrangement was identified in this family, including a deletion of ~50.9 kb and an inverted duplication of ~23.4 kb. The deletion encompasses exons 1‒9 of SMARCAD1 long isoform and exon 1 of the short isoform and includes the first exon of the long noncoding RNA (LOC101929210). PMID: 30289605 Valentin et al., 2018 Case report of a 10 day old male with bilateral heel erosions, which had been bullae at birth. He developed no further bullae or erosions. He was also noted to have innumerable congenital milia around the face, adermatoglyphia of his finger and toes, onychorrhexis, hyperpigmented macules on the hands and feet, and a waxy keratoderma with fine wrinkling of the palms and soles. No hair or teeth anomalies present. Proaband was het for NM_001254949.1:c.-10 + 2 T > G, in the donor splice site of exon 1 of the skin-specific isoform. PMID: 26932190 Li et al., 2016 Chinese family with Basan syndrome. Some patients presented with hyperpigmentation and knuckle pads in addition to classical symptoms of rapidly healing congenital acral bullae, congenital milia and lack of fingerprints. Hair, eyebrows, eyelashes, teeth and nails were all normal. Hypohidrosis was also noted in all 8 affected individuals. Hyperpigmentation was noted in 5/8 patients, and contractures were seen in all 8 individuals, though only mild in 5. WGS of the proband identified a heterozygous c.378+1G>T variant in SMARCAD1 (same as in PMID: 21820097). Variant co-segregated with disease, maximal LOD score was 3.01. NON-SYNDROMIC ADERMATOGLYPHIA: PMID: 32769257 Alruwaili & Hai, 2019 Report of a 60yo Saudi Arabian man with isolated adermatoglyphia, het for c.378+1G>T in SMARCAD1 short isoform. PMID: 24909267 Nousbeck et al., 2014 3 families with isolated adermatoglyphia and heterozygous mutations in SMARCAD1 (c.378 + 2T > C, c.378 + 5G > C and c.378 + 1G > A) PMID: 21820097 Nousbeck et al., 2011 Report of a large Swiss kindred presenting with autosomal-dominant adermatoglyphia (9 affected, 7 unaffected). Linkage analysis gave a LOD score of 2.85. Sequencing detected a heterozygous variant in the skin-specific SMARCAD1 short isoform: c.378+1G>T. N.B.: PMID: 35592705 Xiong et al., 2022 - Basan syndrome family; ARTICLE RETRACTED SMARCAD1 is associated with AD Adermatoglyphia, MIM:136000; AD Basan syndrome, MIM:129200; AD Huriez syndrome, MIM:181600 (OMIM accessed 28th Aug 2026). |
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| Ichthyosis and erythrokeratoderma v4.17 | SMARCAD1 |
Ida Ertmanska changed review comment from: HURIEZ SYNDROME PMID: 33400266 Loh et al., 2021 Report of a large pedigree with Huriez syndrome, caused by a large deletion that abrogates the skin‐specific isoform of SMARCAD1 Affected patients had evidence of scleroatrophy of the hands, some with subtle tapering of the fingers. There was ridging and hypoplasia of the nails. There was mild hyperkeratosis of the palms. On the soles of the feet, focal hyperkeratosis was seen. Good segregation evidence: NC_000004.12:g.94252297_94253585del was present in sampled affected individuals (n = 7) and was absent in unaffected individuals (n = 2). PMID: 29409814 Günther et al., 2018 Report of 2 families with Huriez syndrome. SMARCAD1 variants in the skin specific isoform were highlighted : c.378+2T>C in family A, SMARCAD1 c.378+2_3insT in Family B, and c.363_378+2del in family C. BASAN SYNDROME: PMID: 26932190 Li et al., 2016 Chinese family with Basan syndrome. Some patients presented with hyperpigmentation and knuckle pads in addition to classical symptoms of rapidly healing congenital acral bullae, congenital milia and lack of fingerprints. Hair, eyebrows, eyelashes, teeth and nails were all normal. Hypohidrosis was also noted in all 8 affected individuals. Hyperpigmentation was noted in 5/8 patients, and contractures were seen in all 8 individuals, though only mild in 5. WGS of the proband identified a heterozygous c.378+1G>T variant in SMARCAD1. Variant co-segregated with disease, maximal LOD score was 3.01. N.B.: PMID: 35592705 Xiong et al., 2022 - Basan syndrome family; ARTICLE RETRACTED SMARCAD1 is associated with AD Adermatoglyphia, MIM:136000; AD Basan syndrome, MIM:129200; AD Huriez syndrome, MIM:181600 (OMIM accessed 28th Aug 2026).; to: HURIEZ SYNDROME PMID: 33400266 Loh et al., 2021 Report of a large pedigree with Huriez syndrome, caused by a large deletion that abrogates the skin‐specific isoform of SMARCAD1 Affected patients had evidence of scleroatrophy of the hands, some with subtle tapering of the fingers. There was ridging and hypoplasia of the nails. There was mild hyperkeratosis of the palms. On the soles of the feet, focal hyperkeratosis was seen. Good segregation evidence: NC_000004.12:g.94252297_94253585del was present in sampled affected individuals (n = 7) and was absent in unaffected individuals (n = 2). PMID: 29409814 Günther et al., 2018 Report of 3 families with Huriez syndrome (congenital palmoplantar keratosis, scleroatrophic changes of the hands and feet, and an increased risk for cutaneous squamous cell carcinoma). SMARCAD1 variants in the skin specific isoform were highlighted : c.378+2T>C in family A, SMARCAD1 c.378+2_3insT in Family B, and c.363_378+2del in family C. BASAN SYNDROME: PMID: 34909722 Elhaji et al., 2021 Report of 2 families (Canadian and Dutch) with Basan syndrome: Dutch family: mother and 2 children affected. Mother presented to dermatology clinic at 39 yrs - examination showed adermatoglyphia, hypohidrosis, tapered fingertips, painful palmoplantar punctate keratoderma and punctate hyperkeratosis. She had transient milia at birth. Onychorrhexis with deep longitudinal ridges and Beau lines were also seen. Her children, aged 7yrs and 10yrs, were similarly affected. In addition, callosities were observed on their palms, wrists, and soles of the feet. No other abnormalities regarding their hair, mouth, or teeth were identified. Variant c.374_378+7del was identified in SMARCAD1 short isoform. Canadian family: total 12 individuals affected, with a clear dominant inheritance pattern. All 12 had adermatoglyphia, multiple transient milia on the face, and suffered from lack of sweat and susceptibility to heat strokes. 4/12 had webbed fingers. Proband twin neonates developed blistering near the ankles at birth that healed within days. Normal nails, hair, teeth, and skin pigmentation in all patients. Complex rearrangement was identified in this family, including a deletion of ~50.9 kb and an inverted duplication of ~23.4 kb. The deletion encompasses exons 1‒9 of SMARCAD1 long isoform and exon 1 of the short isoform and includes the first exon of the long noncoding RNA (LOC101929210). PMID: 30289605 Valentin et al., 2018 Case report of a 10 day old male with bilateral heel erosions, which had been bullae at birth. He developed no further bullae or erosions. He was also noted to have innumerable congenital milia around the face, adermatoglyphia of his finger and toes, onychorrhexis, hyperpigmented macules on the hands and feet, and a waxy keratoderma with fine wrinkling of the palms and soles. No hair or teeth anomalies present. Proaband was het for NM_001254949.1:c.-10 + 2 T > G, in the donor splice site of exon 1 of the skin-specific isoform. PMID: 26932190 Li et al., 2016 Chinese family with Basan syndrome. Some patients presented with hyperpigmentation and knuckle pads in addition to classical symptoms of rapidly healing congenital acral bullae, congenital milia and lack of fingerprints. Hair, eyebrows, eyelashes, teeth and nails were all normal. Hypohidrosis was also noted in all 8 affected individuals. Hyperpigmentation was noted in 5/8 patients, and contractures were seen in all 8 individuals, though only mild in 5. WGS of the proband identified a heterozygous c.378+1G>T variant in SMARCAD1 (same as in PMID: 21820097). Variant co-segregated with disease, maximal LOD score was 3.01. NON-SYNDROMIC ADERMATOGLYPHIA: PMID: 24909267 Nousbeck et al., 2014 3 families with isolated adermatoglyphia and heterozygous mutations in SMARCAD1 (c.378 + 2T > C, c.378 + 5G > C and c.378 + 1G > A) PMID: 21820097 Nousbeck et al., 2011 Report of a large Swiss kindred presenting with autosomal-dominant adermatoglyphia (9 affected, 7 unaffected). Linkage analysis gave a LOD score of 2.85. Sequencing detected a heterozygous variant in the skin-specific SMARCAD1 short isoform: c.378+1G>T. N.B.: PMID: 35592705 Xiong et al., 2022 - Basan syndrome family; ARTICLE RETRACTED SMARCAD1 is associated with AD Adermatoglyphia, MIM:136000; AD Basan syndrome, MIM:129200; AD Huriez syndrome, MIM:181600 (OMIM accessed 28th Aug 2026). |
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| Ichthyosis and erythrokeratoderma v1.66 | GJA1 |
Arina Puzriakova changed review comment from: Comment on mode of inheritance: MOI was set to 'both mono- and biallelic' in 2017 as PPK has been observed in some patients with oculodentodigital dysplasia (ODDD). Although GJA1-related ODDD can be dominantly (MIM:164200) or recessively (MIM:257850) inherited, of the 3 unrelated families published to date with confirmed recessive ODDD (PMID: 14981729, 16816024, 29902798) none have reported dermal abnormalities. However, it is possible that these may have been overlooked in the context of other more prominent features of the disorder. Notably, heterozygous variants are also associated with other relevant phenotypes (MIM: 617525 & 104100) GJA1 will be flagged for GMS expert review to determine whether the MOI should be changed on this panel (tagged).; to: Comment on mode of inheritance: MOI should be changed from 'both mono- and biallelic' to 'monoallelic' only at the next GMS panel update. GJA1 was imported to this panel from the 'Palmoplantar keratoderma and erythrokeratodermas' 100K panel and the MOI reflects the mixed inheritance pattern associated with GJA1 oculodentodigital dysplasia (ODDD) (dominant - MIM:164200; recessive - MIM:257850) which can manifest with PPK. Following the uncoupling of PPK and erythrokeratodermas into two separate GMS panels (R165 & R166), only monoallelic variants remain relevant to this particular panel. Monoallelic variants can cause erythrokeratodermia variabilis et progressiva 3 (MIM: 617525). Erythematous palms and soles have also been described in cases of GJA1-related palmoplantar keratoderma (MIM:104100), also associated with heterozygous variants. |
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| Ichthyosis and erythrokeratoderma v1.23 | ENPP1 | Ivone Leong Phenotypes for gene: ENPP1 were changed from Cole disease, 615522 (includes punctate palmoplantar keratoderma) to Cole disease, OMIM:615522 (includes punctate palmoplantar keratoderma) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v1.11 | ALOX12B | Ivone Leong Phenotypes for gene: ALOX12B were changed from Nonbullous congenital ichthyosiform erythroderma (NBCIE); Ichthyosis, congenital, autosomal recessive 2, 242100 (includes palmoplantar keratoderma) to congenital non-bullous ichthyosiform erythroderma, MONDO:0019306; Ichthyosis, congenital, autosomal recessive 2, 242100 (includes palmoplantar keratoderma) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v0.3 | ENPP1 |
Ellen McDonagh gene: ENPP1 was added gene: ENPP1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: ENPP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ENPP1 were set to 26617416; 24075184; 19380683 Phenotypes for gene: ENPP1 were set to Cole disease, 615522 (includes punctate palmoplantar keratoderma) |
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| Ichthyosis and erythrokeratoderma v0.3 | DES |
Ellen McDonagh gene: DES was added gene: DES was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Red Mode of inheritance for gene: DES was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DES were set to Striate keratoderma with woolly hair; Cardiomyopathy, dilated, 1I |
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| Ichthyosis and erythrokeratoderma v0.3 | ALOX12B |
Ellen McDonagh gene: ALOX12B was added gene: ALOX12B was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: ALOX12B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALOX12B were set to 11773004; 17139268; 19890349; 16116617 Phenotypes for gene: ALOX12B were set to Nonbullous congenital ichthyosiform erythroderma (NBCIE); Ichthyosis, congenital, autosomal recessive 2, 242100 (includes palmoplantar keratoderma) |
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