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Poikiloderma with neutropenia (PN), Clericuzio type (OMIM #604173) is a new, unique genodermatosis first described by Clericuzio et al (Am J Med Genet A, 2011, 155, 337) in Navajo Indian population. This disease is characterized by poikiloderma that usually develops in the first year of life and is associated with nail abnormality, palmoplantar hyperkeratosis, chronic neutropenia, and recurrent infections. The rash typically starts from the extremities and spreads centripetally to involve the trunk, face, and ears. Recently, a homozygous mutation in the C16orf57 gene on chromosome 16q13 was identified as a strong candidate as the gene responsible for PN. We report three cases of PN whose clinical presentations, laboratory investigations, and C16orf57 mutation support the diagnosis of PN. One child has developed multiple painful calcinosis cutis lesions. Early-onset poikiloderma should prompt a complete blood count as a screening test., (© 2011 Wiley Periodicals, Inc.)

Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis. It is characterized by early onset of progressive poikiloderma and several other cutaneous and extracutaneous findings including alopecia, dystrophic teeth and nails, juvenile cataracts, short stature, hypogonadism, and bone defects. There are several reported cases of skin malignancies in RTS patients, indicating a possibly higher incidence of cutaneous and noncutaneous malignancies. We report three siblings with RTS who developed cutaneous squamous cell carcinoma (SCC).

Fraternal twins of Malay descent had the Rothmund-Thomson syndrome. This is a rare, autosomal recessive disorder characterized by photosensitivity, poikiloderma, short stature, skeletal defects, and juvenile cataracts. This is the first case report of the syndrome from southeast Asia.

An 11-year-old boy had dyskeratosis congenita, elevated fetal hemoglobin level, X-linked ocular albinism, and juvenile-onset diabetes mellitus. A review of the international literature revealed that elevated fetal hemoglobin has been noted in 15 reported cases of dyskeratosis congenita. It is a previously unrecognized, commonly associated finding in dyskeratosis congenita that may provide insight into the location and function of the gene for dyskeratosis congenita.

Since birth an 8-year-old girl had a rash on both cheeks, consistent clinically and histologically with poikiloderma. She also had visual impairment to the extent of light perception only, due to microthalmia and dense scleralization of the corneas. These features were considered consistent with a diagnosis of Rothmund-Thomson syndrome.

We evaluated two patients with hereditary bullous poikiloderma. Both had acral bullae, generalized poikiloderma with prominent atrophy, and acral keratoses. One patient, with sporadic disease, had, in addition, urethral and subglottic stenoses, webbing of digits, and poor dentition. The other patient, whose disease was dominantly inherited, had koilonychia. The results of cutaneous histopathology, electron microscopy, and immunofluorescence mapping studies are presented. It is possible that Kindler syndrome and Weary's hereditary acrokeratotic poikiloderma are variants of the same disease.

Rothmund-Thomson syndrome, a rare autosomal recessive disorder, is characterized by photosensitivity; specific skin changes including poikiloderma, atrophy, and telangiectases; juvenile cataracts; short stature; and bone defects. We describe two siblings with this syndrome.