Reticulate acropigmentation of Dohi: A case report of autosomal recessive inheritance

Alfadley, Abdullah; Ajlan, A; Hainau, Bo; Pedersen, Kristian-Thestrup; Hoqail, Ibraheem Al

doi:10.1067/mjd.2000.103994

Cited by 47 publications

(45 citation statements)

References 20 publications

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“…23 Usually, DSH displays an autosomal-dominant pattern of inheritance with high penetrance, 22 although examples of autosomal-recessive inheritance have been reported. 6,7 Patients with autosomal-recessive DSH do not particularly differ from patients with autosomal-dominant DSH, except that they can present with alopecia, a feature overlapping with the clinical presentation reported here. 6,7,24 No other symptoms or skin cancers have been reported in affected patients.…”

Section: Discussionsupporting

confidence: 47%

“…6 The genetic causes are heterogeneous and both autosomal-dominant and -recessive inheritance have been reported. 6,7 Causal heterozygous variants have already been identified in three genes: SASH1, DSRAD and ABCB6. [8][9][10] Here, we present a new example of reverse phenotyping that made it possible to identify homozygous variants in SASH1 as the likely cause of a new genodermatosis overlapping with DSH.…”

Section: Introductionmentioning

confidence: 99%

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Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma

et al. 2014

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9SASH1 (SAM and SH3 domain-containing protein 1) is a tumor suppressor gene involved in the tumorigenesis of a spectrum of solid cancers. Heterozygous SASH1 variants are known to cause autosomal-dominant dyschromatosis. Homozygosity mapping and whole-exome sequencing were performed in a consanguineous Moroccan family with two affected siblings presenting an unclassified phenotype associating an abnormal pigmentation pattern (hypo-and hyperpigmented macules of the trunk and face and areas of reticular hypo-and hyperpigmentation of the extremities), alopecia, palmoplantar keratoderma, ungueal dystrophy and recurrent spinocellular carcinoma. We identified a homozygous variant in SASH1 (c.1849G4A; p.Glu617Lys) in both affected individuals. Wound-healing assay showed that the patient's fibroblasts were better able than control fibroblasts to migrate. Following the identification of SASH1 heterozygous variants in dyschromatosis, we used reverse phenotyping to show that autosomal-recessive variants of this gene could be responsible for an overlapping but more complex phenotype that affected skin appendages. SASH1 should be added to the list of genes responsible for autosomal-dominant and -recessive genodermatosis, with no phenotype in heterozygous patients in the recessive form, and to the list of genes responsible for a predisposition to skin cancer.

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Section: Discussionsupporting

confidence: 47%

Section: Introductionmentioning

confidence: 99%

Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma

et al. 2014

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“…3 Entretanto, casos raros de padrão autossômico recessivo têm sido descritos. 1,4 A mutação está localizada no gene 1q21.3, que codifica a adenosina deaminase RNA específica. 3 As lesões cutâneas caracterizam-se por pequenas máculas hiper e hipopigmentadas com padrão mosqueado na face dorsal das mãos e pés e, algumas vezes, nos antebraços e pernas.…”

Section: Comentáriosunclassified

“…O quadro se inicia na infância, estabiliza-se na adolescência e permanece por toda a vida. 1,4,5 As lesões predominam em áreas fotoexpostas e em alguns casos há relatos de piora após exposição solar, mas não há evidências de fotossensibilidade. 5 Histologicamente pode haver atrofia leve da epiderme e aumento da melanina na camada basal, mas com número normal de melanócitos.…”

Section: Comentáriosunclassified

“…Nas lesões hipocrômicas pode haver ou não ausência ou diminuição de melanina, sendo essa diminuição menos pronunciada nos pacientes de fototipo maior. 1 Pacientes com DSH e fibromatose, psoríase ou distonia idiopática já foram descritos, mas essas são consideradas associações ocasionais. Superposição com a acropigmentação reticulada de Kitamura e a doença de Dowling-Degos também já foi relatada.…”

Section: Comentáriosunclassified

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Caso para diagnóstico

Froes

Pereira

Rocha

2009

An. Bras. Dermatol.

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HISTÓRIA DA DOENÇAPaciente pardo, do sexo masculino, 13 anos de idade, com história de efélides na face desde os oito meses de idade e exposição solar intensa durante toda a infância. Aos sete anos passou a apresentar lesões hipocrômicas na região periorbitária e membros. Não havia casos semelhantes na família, e os pais não eram consanguíneos.Ao exame dermatológico notavam-se pequenas máculas hipercrômicas e hipocrômicas disseminadas no dorso das mãos (Figura 1)

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Two Frameshift Mutations in the RNA-Specific Adenosine Deaminase Gene Associated With Dyschromatosis Symmetrica Hereditaria

Gao¹,

Wang²,

Yang³

et al. 2005

Arch Dermatol

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Reticulate acropigmentation of Dohi: A case report of autosomal recessive inheritance

Cited by 47 publications

References 20 publications

Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma

Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma

Caso para diagnóstico

Two Frameshift Mutations in the RNA-Specific Adenosine Deaminase Gene Associated With Dyschromatosis Symmetrica Hereditaria

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