Incontinentia pigmenti is a rare X-linked genodermatosis that affects mainly
female neonates. The first manifestation occurs in the early neonatal period and
progresses through four stages: vesicular, verruciform, hyperpigmented and
hypopigmented. Clinical features also manifest themselves through changes in the
teeth, eyes, hair, central nervous system, bone structures, skeletal musculature
and immune system. The authors report the case of a patient with cutaneous
lesions and histological findings that are compatible with the vesicular stage,
emphasizing the importance of early diagnosis and appropriate therapeutic
management.
Hay-Wells syndrome or AEC (Ankyloblepharon, Ectodermal dysplasia and Cleft lip and
palate syndrome) is a rare ectodermal disorder. The treatment is aimed to prevent
clinical complications. We describe the case of a four-month old male patient with
erosions on the scalp, trunk and arms, trachyonychia, deformity of the ears,
micropenis, cleft palate, decreased eyebrow and eyelash hairs, in addition to
antecedents of surgical correction of ankyloblepharon. The importance of the correct
diagnosis is emphasized, besides the investigation of the associated diseases,
treatment of complications and genetic counseling of the parents.
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