The CHILD Nevus: A Distinct Skin Disorder

Abstract

Background: The CHILD syndrome is characterized by an ichthyosiform and inflammatory nevus showing a strikingly unilateral arrangement. No particular name has so far been given to this nevus, which is why this skin disorder has been described under various inappropriate terms such as epidermal nevus, inflammatory linear verrucous epidermal nevus (ILVEN), unilateral ichthyosiform erythroderma, unilateral ichthyosis or verruciform xanthoma. Objective: In order to avoid such confusion and to make it easier for clinicians to recognize this skin disease, a new name should be given to this disorder, and the diagnostic criteria should be delineated. Method: The term CHILD nevus is proposed and the distinctive clinical, histopathological and ultrastructural features of this disorder are described. Results: A comprehensive clinical and genetic comparison shows that the CHILD nevus can be distinguished from all other types of epidermal nevi by characteristic features such as ptychotropism, waxy yellowish scaling, a unique lateralization pattern showing both diffuse and linear involvement and the presence of foamy histiocytes in the papillae (‘verruciform xanthoma’). Contrasting with all other epithelial nevi, the CHILD nevus is an inherited X-linked dominant, male-lethal trait. Conclusion: This nevus represents a separate cutaneous entity. Future clinical research will probably show that the underlying gene defect often manifests itself as an isolated skin disorder. Such cases should no longer be confused with ILVEN. Recognition of this particular skin disorder is important for genetic counseling because a woman showing an isolated CHILD nevus has an increased risk of giving birth to a daughter suffering from a complex congenital disorder, the CHILD syndrome.

Malformation syndromes caused by disorders of cholesterol synthesis

“…The function of NSDHL as a C-4 sterol dehydrogenase was substantiated by the accumulation of 4-methyl and 4,4-dimethyl sterol intermediates in tissue samples and cultured skin fi broblasts from heterozygous Bpa/Str mutant females ( 271 ). In addition, the mouse NSDHL protein can rescue the conditional lethality of S. cerevisiae that lack the ortholreduction defects ( 245,257,258 ) ( Fig. 6E,F ).…”

“…The skin lesion(s) typically affect one side of the body, with a sharp line of demarcation at the midline, and they may be extensive. Happle et al ( 245 ) have argued that the characteristic lesion of CHILD Syndrome is a distinct type of infl ammatory nevus with an erythematous base and yellow, waxy scales, although some regions may have a more "warty" or verrucous appearance. The lesions are present at birth or within the fi rst few months of life.…”

“…Several males with typical features of CDPX2 have been reported with a 47,XXY karyotype or somatic mosaicism as a mechanism ( 235,(244)(245)(246). However, fi ve males with 46, XY karyotypes, a neurodevelopmental phenotype, and mutations in the ⌬ 8 -⌬…”

CHILD Syndrome Caused by a Deletion of Exons 6–8 of the <i>NSDHL</i> Gene

“…The clinical phenotype of CHILD syndrome shows some features overlapping with CDPX2 such as stippled epiphyses, asymmetric bone lesions and X-linked dominant, male-lethal inheritance, but the characteristic and unique morphology of the CHILD nevus, the ipsilateral dysplasia of limbs and the presence of other anomalies are specific for CHILD syndrome [1, 15, 16]. We did not find an involvement of the EBP gene in our patient.…”

Cutaneous Mosaicism and Dermatoses with Mosaic Pattern: Review

“…El-ayak distal falanksta çilek-benzeri lezyonlar patognomiktir. 13,16,26,27 İpsilateral ekstremite hipoplazisi veya agenezisi eşlik eder. İpsilateral viseral, santral sinir sistemi anomalisi görülebilmektedir (beyin, akciğer, tiroid hipoplazisi).…”