PMID: 3767229Jan 1, 1986Paper

Association of a pediatric bullous eruption, cutaneous and muscular atrophy, hyperpigmentation and dysmorphism. A new entity?

Annales de dermatologie et de vénéréologie
J P SciollaJ Meynadier

Abstract

We report the case of a young patient who presented with dysmorphism, bullous eruption of childhood, cutaneous and muscular atrophy and hyperpigmentation. Attempts were made to find out where this case fits in the nosological framework. This young boy without any particular family history was born with facial dysmorphism consisting of micrognathia, right microphtalmos, gothic palate and left facial palsy of the peripheral type. At the age of 2 years and 9 months, generalized fragility of the skin appeared in the form of a recurrent bullous eruption. The bullae left numerous atrophic and depigmented scars; they spared the mucosae, and there was no photosensitivity. At the same time, generalized skin atrophy developed: the subcutaneous venous network was abnormally visible and there was diffuse hyperpigmentation. The hair was fine, curly and thin. The teeth dystrophic and abnormally positioned. The cornea of the right eye was invaded by conjunctiva. The bullous eruption subsided when the child was about 6 years' old, but the skin atrophy became worse and was accompanied with amyotrophy of the limbs and retraction in flexion of the joints at the extremities. Chronic ulcerations were present on the lower limbs. Statural and pondera...Continue Reading

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