Lentiginosis centrofacialis Q82.8

Touraine described this disease for the first time (Touraine, 1941). He discovered a total of 32 cases in 17 families studied. In 9 of the families, one parent and one or more children were affected. In 5 families with a total of 15 cases, only 2 or more siblings were affected. Mental retardation was frequently present. Dociu later compiled a series of 40 cases and emphasized that no other lentigines were found except in the face (Dociu I et al. 1976).

Rare, probably autosomal-dominantly inherited syndrome with facial lentigines and associated malformations. The genetic defect of this (neuro-)ectodermal dysplasia is unknown so far.

Small brownish or black spots.

Associated symptoms: Spina bifida, hypertrichosis sacralis, kyphoscoliosis, funnel chest, absence of maxillary central incisors, mental retardation with intelligence reduction, primary keratoses, epilepsy.

Ephelides

Peutz-Jeghers syndrome

Carney complex

1. Dociu I et al (1976) Centrofacial lentiginosis. Brit J Derm 94: 39-43.

2. Touraine A (1941) Lentiginosis centro-faciale et dysplasies associées. Bull Soc Fr Dermatol Syphiligr 48: 518-522.
3. Touraine A (1941) Une nouvelle neuro-ectodermose congenitale: la lentiginose centro-faciale et ses dysplasies associées. Ann Dermatol Syphiligr (Paris) 8: 453-473.

4. Vakos J et al (1961) Neurodysraphic centro-facial lentiginosis. Presse Med 69:1349-1351.