Sujet(s)
Face/anatomopathologie , Dermatoses papulosquameuses/anatomopathologie , Acanthosis nigricans/anatomopathologie , Adulte , Bolivie/ethnologie , Épiderme/anatomopathologie , Femelle , Humains , Hyperpigmentation/anatomopathologie , Papillome/anatomopathologie , Dermatoses papulosquameuses/diagnosticRÉSUMÉ
The X-linked dominant CHILD syndrome (congenital hemidysplasia with ichthyosiform nevus and limb defects) is a rare developmental defect characterized by a strictly lateralized inflammatory nevus. In the majority of cases, the right side of the body is affected. Ipsilateral hypoplastic lesions may involve the brain, skeletal structures, lungs, heart or kidneys. We describe a case of CHILD syndrome involving the left side of the body. Absence of metacarpal, metatarsal and phalangeal bones of the left hand and foot resulted in oligodactyly, with only 3 fingers and 1 toe. An ipsilateral inflammatory epidermal nevus with hyperkeratosis, parakeratosis, acanthosis and perivascular lymphohistiocytic infiltrate was strictly confined to the left half of the patient's body. The phenotype was shown to be associated with a deletion of exons 6-8 of the X-linked NSDHL gene, confirming that CHILD syndrome is due to loss of function of an enzyme involved in cholesterol biosynthesis.
Sujet(s)
3-Hydroxysteroid dehydrogenases/génétique , Malformations multiples/diagnostic , Délétion de segment de chromosome , Chromosomes humains de la paire 6 , Érythrodermie ichtyosiforme congénitale/génétique , Anomalies morphologiques congénitales des membres/diagnostic , Malformations multiples/génétique , Séquence nucléotidique , Enfant d'âge préscolaire , Chromosomes humains de la paire 8 , Analyse de mutations d'ADN , Exons/génétique , Femelle , Études de suivi , Humains , Hydroxysteroid dehydrogenases/génétique , Érythrodermie ichtyosiforme congénitale/diagnostic , Anomalies morphologiques congénitales des membres/génétique , Données de séquences moléculaires , Réaction de polymérisation en chaîne/méthodes , SyndromeRÉSUMÉ
Among the various types of pigmentary disturbances associated with mosaicism, the phylloid pattern (Greek phyllon = leaf, eidos = form) is characterized by multiple leaf-like patches reminiscent of an art nouveau painting. The number of cases displaying this unusual pattern is so far limited. We describe a phylloid pattern of hypomelanosis in a 3-year-old girl with multiple congenital anomalies including microcephaly, midfacial hypoplasia, cleft lip, coloboma, posteriorly rotated ears, pectus carinatum, and pronounced mental and physical retardation. In addition, this child had oval or oblong patches of hyperpigmentation involving the trunk in a horizontal arrangement dissimilar from the phylloid hypomelanotic pattern. In peripheral blood lymphocytes a karyotype 46,XX,-13,+t(13q;13q) was consistently found, whereas cultured skin fibroblasts showed a complex form of mosaicism comprising three different abnormal cell lines (46,XX,-13,+t(13q;13q)/45,XX,-13/45,XX,-13,+frag). This case provides further evidence that the phylloid pattern represents a separate category of pigmentary disturbance to be distinguished from other types of cutaneous mosaicism such as the lines of Blaschko or the checkerboard arrangement.