Onychotrichodysplasia And Neutropenia

Clinical Features

Cantu et al. (1975) described a male infant, born of consanguineous parents, with a previously undescribed syndrome consisting of hypoplastic fingernails, trichorrhexis, chronic neutropenia, and psychomotor retardation.

In 2 daughters, and perhaps a third, of first-cousin parents, Hernandez et al. (1979) observed the same syndrome. IQ was in the vicinity of 70. The nails were hypoplastic with koilonychia and onychorrhexis. Head hair was absent at birth. Later it was short, dry, lusterless, curly, and sparse. The eyelashes were similar and caused chronic irritative conjunctivitis. No axillary hair and only sparse pubic hair developed at puberty. Microscopically, hairs showed trichorrhexis. Neutropenia was persistent with intermittent aggravation. Lymphocytes were increased, especially when the neutrophils were lowest. The patients had recurrent infections.

Corona-Rivera et al. (1981) described another case, the offspring of related parents, and called the condition ONMRS to include mental retardation. However, Verhage et al. (1987) described a child typical in all ways except for normal intelligence. They suggested that the mild mental retardation observed in previously reported patients could be the consequence of repeated infections. Verhage et al. (1987) concluded that the chronic neutropenia falls into the category of 'lazy leukocyte syndrome' (150550), a heterogeneous entity. Dallapiccola et al. (1994) described a second sporadic case of onychotrichodysplasia and chronic neutropenia with normal intelligence.

Itin and Pittelkow (1991) described this disorder in a white girl of Mexican-American ancestry.

Inheritance

The transmission pattern of onychotrichodysplasia with chronic neutropenia in the family reported by Hernandez et al. (1979) was consistent with autosomal recessive inheritance.