We present a 32-year-old white patient with congenital reticular ichthyosiform erythroderma, also known as ichthyosis variegata. The patient had typical clinical features with areas of normal appearing skin surrounded by erythematous hyperkeratotic patches. The smaller ‘‘confetti-like’’ patches were mostly present on the trunk, while the larger areas forming a reticular pattern predominated on ...

Bullous congenital ichthyosiform erythroderma (BCIE) is a dominantly inherited blistering skin disorder caused by point mutations in the suprabasal cytokeratins 1 or 10. Targeting the murine cytokeratin 10 gene in ES cells resulted in mice with different phenotypes in the homozygotes and heterozygotes; both of which exhibit similarities to specific clinical characteristics of BCIE. Homozygotes ...

This article describes 31 examples of acantholytic acanthoma, a newly recognized, solitary, benign cutaneous tumor. Acantholytic acanthoma was typically an asymptomatic, keratotic papule or nodule. Patients ranged in age from 32 to 87 years (median 60 years); the ratio of men to women was 2:1; the most frequent clinical diagnosis was keratosis; and half of the growths were on the trunk of the b...

Abstract Background Chanarin–Dorfman syndrome (CDS; OMIM # 275630) is a rare neutral lipid storage disorder caused by mutation in ABHD5 (a/b hydrolase domain containing 5″) cofactor for adipose triglyceride lipase (ATGL) resulting intracellular accumulation of triacylglycerol (TG) numerous body tissues. It an autosomal recessive that causes the partial or total loss ATGL activation, leading to ...