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Keratoderma with scleroatrophy of the extremities, also referred to as Huriez syndrome, is a rare, autosomal dominant condition, first described in 42 of 132 members of two families from northern France. The term sclerotylosis was proposed because of the pseudosclerodermatous appearance of the hands and digits. The distinctive feature of this syndrome is the risk of the development of squamous cell carcinoma on affected skin. Since the initial description of this disease, three other families, and possibly a fourth, have been reported. In the present study, we reassessed the clinical, pathological and genetic data in 114 members of one of the two original families, of whom 27 were affected by this syndrome.

We report 2 cases of dermatomyositis with follicular hyperkeratosis (FHK) in children. They occurred in a 10-year-old Vietnamese girl and a 9-year-old Caucasian boy. The girl’s FHK disappeared after 2 months of treatment. The boy presented, 15 months after the onset of his dermatomyositis, with a generalised FHK which lasted for 6 months. FHK can appear before, during or after dermatomyositis. It is more often generalised but can be localised. Erector pili myositis and ostial hyperkeratosis may be the explanation. The prognostic value of FHK in dermatomyositis is unknown. This manifestation, initially considered to be more frequent in the Far East, is not as rare in Western countries as the few reported cases suggest.

We describe a new case of isolated trichothiodystrophy. This entity is characterized by sparse and brittle hair, low sulfur hair content, tiger tail pattern of the hair under polarizing microscopy, clean transverse fractures through the hair shaft and absent or defective hair cuticles. To our knowledge there are only two reported cases of isolated trichothiodystrophy without associated additional ectodermal or neuroectodermal dysplasias. Polarized microscopy of cut hair showed transverse fracture points (trichoschisis) and alternating dark and bright bands. Low sulfur content of the hairs was confirmed by amino acid analysis. Many acronyms and eponyms have been created to describe sulfur-deficient brittle hair associated with neuroectodermal abnormalities, leading to confusion. We suggest to use a simple classification scheme, according to increasing severity of associated features as proposed by Van Neste.