Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality

Clinical Features

Shokeir (1977) reported a 4-generation family in which 12 individuals had alopecia universalis and dental pyorrhea resulting in tooth loss. Eight individuals, all in the last 2 generations, also had psychomotor epilepsy and peridontal pyorrhea, and 7 had borderline cognitive function. The proband was a 21-year-old woman who developed seizures at age 18. The seizures were characterized by a sense of unreality, nausea, wandering, and loss of memory without frank loss of consciousness, suggestive of temporal lobe epilepsy. She had an IQ of 72. Microscopic analysis of the proband's hair showed a thin shaft with uneven girth and occasional beading. The inheritance pattern in this family was consistent with autosomal dominant. Shokeir (1977) noted that the affected tissues all derived from the ectoderm. Similar disorders with mental retardation and alopecia, but showing autosomal recessive inheritance, are discussed in 203600 and 203650.

Timar et al. (1993) described a 23-month-old boy with a similar disorder to that described by Shokeir (1977). He had congenital total permanent alopecia, febrile seizures, purulent conjunctivitis, and mental retardation. The child also had dry skin and a giant pigmented nevus on the left lower back. There were some dysmorphic features, including growth retardation, macrocephaly, facial asymmetry, epicanthal folds, hypertelorism, strabismus, high-arched palate, and distorted dentition of the central incisors. There was no family history, suggesting a de novo event.

Nomenclature

Timar et al. (1993) suggested the designation Shokeir syndrome, which should not be confused with the types I and II of Pena-Shokeir syndrome (208150 and 214150, respectively).