Dear Editor, Hereditary hypotrichosis simplex (HHS) refers to a group of monogenic isolated alopecias characterized by diffuse and progressive loss scalp and/or body hair. They start in childhood progress with age. Affected individuals typically present sparse-to-absent hair, may have brittle eyebrows eyelashes, as well sparse without any characteristic hair shaft anomalies. HHS research has id...

The cranial sutures have delayed ossification and fontanelles remain open for a long time and as a result brachycephaly occurs with frontal and parietal bossing and thin calvarium, facial bones are hypoplastic, small beaked nose with receeding, hypoplastic mouth and chin. Low-set ears, thin and light hair, hypotrichosis of scalp, eyebrows and eye lashes, micro-opthalmia with congenital cataract...

A male child with tetra-amelia, hypotrichosis, upward slanting palpebral fissures, lack of lacrimal openings, hypoplastic lacrimal ducts and sacs opening towards the exterior, prominent and bulbous nose, large downturned mouth, high narrow palate, bilateral preauricular pits, sacral dimple, bilateral undescended testes, and developmental retardation is reported. The parents were second cousins....

Ectodermal dysplasias are conditions that present primary defects in two or more tissues of ectodermal origin and can be classified as hypohidrotic and hidrotic. Hidrotic ectodermal dysplasia or Clouston syndrome is an autosomal dominant genodermatosis and appears as a triad of clinical findings: palmoplantar keratoderma, nail dystrophy, and hypotrichosis. The hair is sparse and brittle. The na...

Celia Moss*, Amalia Martinez-Mir†, HaMut Lam†, Marija Tadin-Strapps†, Ana Kljuic and Angela M Christiano† *Department of Dermatology, Birmingham Children's Hospital NHS Trust, Birmingham, UK †Departments of Dermatology and Genetics and Development, Columbia University, New York, New York Correspondence: Angela M. Christiano, PhD, Department of Dermatology, Columbia University, College of Physic...

Dear Editor, Clouston syndrome, also called hidrotic ectodermal dysplasia (HED), is an autosomal dominant ectodermal dysplasia characterized by a clinical triad of onychodystrophy, generalized hypotrichosis, and palmoplantar keratoderma (1). Herein we report the case of a 24-year-old male with the distinctive clinical triad associated with multiple epidermoid cysts, which probably reflects the ...

CONGENITAL lack of lashes and eyebrows, whether total or partial, is seldom encountered. Associated at times with other developmental defects, mostly ectodermal, it may appear in conjunction with general alopecia, faulty dentition, and/or cataract formation (Duke-Elder, 1952). In the so-called Ullrich-Dohna syndrome, it has been seen in combination with multiple ocular malformations, strabismus...