Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth.

Inherited hypertrichoses are rare syndromes characterized by excessive hair growth that does not result from androgen stimulation, and are often associated with additional congenital abnormalities. In this study, we investigated the genetic defect in a case of autosomal recessive congenital generalized hypertrichosis terminalis (CGHT) (OMIM135400) using whole-exome sequencing. We identified a single base pair substitution in the 5' donor splice site of intron 32 in the ABC lipid transporter gene ABCA5 that leads to aberrant splicing of the transcript and a decrease in protein levels throughout patient hair follicles.

Scar-like lesion on dorsal nose (cellular neurothekeoma).

Neurothekeomas are tumors of neural differentiation and of unknown origin that occur in females at the 2nd and 3rd decades of life. They usually affect the face with an unspecific clinical aspect. The histological features include cellular or mixoid differentiation and immunohistochemistry can be positive for protein s-100, vimentin and epithelilal membrane antigen (EMA).

[Focal acral hyperkeratosis associated with pitted keratolysis].

Focal acral hyperkeratosis is characterized by the same clinical appearance as acrokeratoelastoidosis, but without abnormalities in the elastic fibers. We present the case of a woman with a 10-year case of dermatosis localized on the palms, soles and dorsum of the metacarpophalangeal joints, consisting of multiple polygonal papules and associated hyperhydrosis, clinically compatible with acrokeratoelastoidosis. Her father had a history of the disease.

Ulcerative cutaneous mycobacteriosis due to Mycobacterium ulcerans: report of two Mexican cases.

We report two patients from Central Mexico, with ulcerated cutaneous lesions containing acid-fast bacilli (AFB) and ultimately diagnosed as Mycobacterium ulcerans disease. The first patient had a long history (11 years) of disease involving multiple lesions of both upper and lower extremities. Histopathological changes included necrosis of the subcutaneous tissue with large numbers of extracellular AFB.