[Association of a pediatric bullous eruption, cutaneous and muscular atrophy, hyperpigmentation and dysmorphism. A new entity?].
January 1986
in “
PubMed
”
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 facial dysmorphism, recurrent bullous eruptions, cutaneous and muscular atrophy, and hyperpigmentation. Despite normal growth and mental development, the child exhibited fine, thin hair, dystrophic teeth, and chronic ulcerations. Biochemical tests were normal, but skin microscopy revealed abnormalities in collagen and elastic fibers. The case did not fit neatly into existing categories of congenital bullous diseases or connective tissue disorders, such as congenital poikiloderma, recessive dystrophic epidermolysis bullosa, or Ehlers-Danlos syndrome, suggesting it might represent a new clinical entity.