Adermatoglyphia

Definition:

Adermatoglyphia (ADERM) is a rare autosomal dominant condition characterized by lack of palmoplantar epidermal ridges. Mutations in SMARCAD1 was identified in patients. It seems that haploinsufficiency for the skin-specific isoform of SMARCAD1 directly or indirectly perturbs the expression of important signalling pathways associated with epidermal differentiation.

References:

[1]. J Nousbeck, et al. Mutations in SMARCAD1 cause autosomal dominant adermatoglyphia and perturb the expression of epidermal differentiation-associated genes. Br J Dermatol. 2014 Dec;171(6):1521-4. [Content Brief]

[2]. Janna Nousbeck, et al. A mutation in a skin-specific isoform of SMARCAD1 causes autosomal-dominant adermatoglyphia. Am J Hum Genet. 2011 Aug 12;89(2):302-7. [Content Brief]

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