Association of a Pediatric Bullous Eruption, Cutaneous and Muscular Atrophy, Hyperpigmentation and Dysmorphism: A New Entity?

    January 1986 in “ PubMed ”
    J P Sciolla, Bastien Guillot, G Barnéon, Pilar Luis Montoya, J J Guilhou, J Meynadier
    TLDR The boy's symptoms suggest a possible new medical condition.
    The document reported a case of a young boy with a unique combination of symptoms, including dysmorphism, bullous eruptions, cutaneous and muscular atrophy, and hyperpigmentation. The child exhibited facial dysmorphism at birth and developed recurrent bullous eruptions by age 2 years and 9 months, which left atrophic and depigmented scars. Despite normal growth and mental development, the child experienced worsening skin atrophy, limb amyotrophy, and joint retraction. Biochemical tests showed no abnormalities, but skin microscopy revealed rarefied anchorage fibers and abnormal connective tissue. The case did not fit neatly into existing categories of congenital bullous diseases or connective tissue dystrophias, suggesting it might represent a new entity.
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