Abstract
CHILD syndrome (OMIM # 308050) is an acronym designation for Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects. This X-linked dominant, male-lethal trait is characterized by: (1) congenital unilateral inflammatory erythematous patches often covered in dry yellowish scales which usually undergo spontaneous partial regression during childhood; (2) psoriasiform epidermal hyperplasia with marked hyperkeratosis and parakeratosis, with sparse perivascular lymphocytic infiltrates at skin histology; and (3) ipsilateral hypoplasia of the limbs (but also of the skeleton) and/or other organs (e.g., lungs, thyroid, muscles, cranial nerves, brain, brainstem, cerebellum and spinal cord, etc.). Other associate extra-cutaneous manifestations include cardiovascular and neurological deficits (related to the underlying central visceral and/or nervous system abnormalities) (Happle et al. 1980, Tang and McCreadle 1974, Taybi and Lachman 1996). CHILD syndrome is caused by mutations in the gene encoding NSDHL (3ß-hydrosteroid dehydrogenase-like protein) at Xq28 (Konig et al. 2000, 2002). Emopamil-binding protein (EBP) gene defects (responsible for the Conradi-Hunermann-Happle syndrome/X-linked dominant chondrodysplasia punctata—EBP/CDPX2 gene on Xp11) (OMIM # 302960) (see chapter 38) have been also described (OMIM™ 2006). Both enzymes are involved in cholesterol biosynthesis.
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References
Baden HP, Rex JH (1970) Linear ichthyosis associated with skeletal abnormalities: new entity. Arch Dermatol 102: 126–128.
Barona-Mazuera del Rosario M, Hidalgo-Galvan LR, de la Luz Orozco-Covarrubias, Duran-McKinster C, Tamayo-Sanchez L, Ruiz-Maldonado R (1997) Proteus syndrome: new findings in seven patients. Ped Dermatol 14: 1–5.
Bittar M, Happle R (2004) CHILD sìndrome avant la lettre. J Am Acad Dermatol 50: 34–37.
Bittar M, Happle R, Grzeschik KH, Leveleki L, Hertl M, Bornholdt D, König A (2006) CHILD syndrome in 3 generations: the importance of mild or minimal skin lesions. Arch Dermatol 142: 348–351.
Cullen S, Harris DE, Carter CH, Reed WB (1969) Congenital ichthyosiform erythroderma. Arch Dermatol 99: 724–729.
Emami S, Rizzo WB, Hanley KP, Taylor JM, Goldyne ME, Williams ML (1992) Peroxisomal abnormality in fibroblasts from evolved skin of CHILD syndrome: Case study and review of peroxisomal disorders in relation to skin disease. Arch Dermatol 128: 1213–1222.
Falek A, Heath CW, Ebbin AJ, McLean WR (1969) Unilateral limb and skin deformities with congenital heart disease in two siblings: a lethal syndrome. J Pediatr 73: 910–913.
Happle R (1979) X-linked dominant chondrodysplasia punctata. Review of literature and report of a case. Hum Genet 53: 65–73.
Happle R (1990) Psychotropism as a cutaneous feature of the CHILD syndrome. J Am Acad Dermatol 23: 763–766.
Happle R (1991) CHILD syndrome is not ILVEN. J Med Genet 28: 214.
Happle R, Kerlic H, Lenz M (1990) The CHILD-Syndrom Congenital hemidysplasia with ichthyosiform erythroderma and limb defects. Eur J Pediatr 134: 27–33.
Happle R, Kerlic D, Steijlen PM (1990) CHILD-Syndrom bei Mutter und Tochten. Hautarzt 41: 105–108.
Happle R, Mittag, Kuster W (1995) The CHILD nevus: a distinct skin disorder. Dermatology 191: 210–216.
Happle R, Effendy I, Magahed M, Orlow SJ, Kuster W (1996) CHILD syndrome in a boy. Am J Med Genet 62: 192–194.
Hebert AA, Esterly NB, Holbrook KA, Hall JC (1987) The CHILD syndrome: Histologic and ultrastructural studies. Arch Dermatol 123: 503–509.
Hecht F, Hecht BK, Austin WJ (1982) Incontinentia pigmenti in Arizona Indians including transmission from mother to son inconsistent with the half chromatid migration model. Clin Genet 21: 293–296.
Herman GE (2003) Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes. Hum Molec Genet 12(R1): R75–R88.
König A, Happle R, Borholdt D, Engel H, Grzeschik KH (2000) Mutations in the NSDHL gene, encoding a 3-beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. Am J Med Genet 90: 339–346.
König A, Happle R, Fink-Puches R, Soyer HP, Borholdt D, Engel H, Grzeschik KH (2002) A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement. J Am Acad Dermatol 46: 594–596.
Kurczynski TW, Berns JS, Johnson WE (1982) Studies of a family with incontinentia pigmenti variably expressed in both sexes. J Med Genet 19: 447–451.
Lewis RG, Messner DG (1970) Prosthetic fitting of congenital unilateral ichthyosiform erythroderma. A case report. Interclin Inform Bull 9: 1–6.
Lipsitz PJ, Suser F, Weinberg S, Valderama E (1979) Congenital unilateral ichthyosis in a newborn. Amer J Dis Child 133: 76–78.
OMIM™ (2006) Online Mendelian Inheritance in Man. Baltimore: Johns Hopkins University. http://www.ncbi.nlm.nih.gov/omim
Pereiro Miguerns M, Pena Guitian J, Vieites Faya F (1960) Lesiones psoriasiform de distribution linear acompanadas de malformaciones congenitas. Actas Dermosifiliogr (Madrid) 51: 213–219.
Peter C, Meinecke P (1993) CHILD-Syndrom: Fallbericht einer meltenen Genodermatose. Hautarzt 44: 590–593.
Prayson RA, Kotagal P, Wyllie E, Bingaman W (1999) Linear epidermal nevus and nevus sebaceous syndrome. A clinicopathologic study of 3 patients. Arch Pathol Lab Med 123: 301–305.
Rossman RE, Shapiro EM, Freeman RG (1963) Unilateral ichthyosiform erythrodermia. Arch Dermatol 88: 567–571.
Sachs O (1902) Ein 8-jähriges Mädchen mit einem Naevus papillomatous der rechten Achselhöhle und der Finger der rechten Hand (mit Demonstration von Moulagen, Photographien und mikroskopischen Präparaten). Arch Dermatol Syphilis (Vienna) 60: 147.
Sachs O (1903a) Demonstration der Mikroskopischen Praparate eines Naevus verrucosus der Achselhöhle eines 8-jährigen Mädchens mit dem Befunde xanthomahnlicher Zellen in Anordnung von Naevuszellen. Arch Dermatol Syphilis 66: 212.
Sachs O (1903b) Beitrage zur Histologie der weichen Naevi. (Ein Fall von sptiztem kondylom am kleinen Finger der rechten Hand, xanthomartigen Naevus verrucosus der rechten Achsellhöhle und mehreren über den Körper verstreuten Naevi lineares). Arch Dermatol Syphilis (Vienna) 66: 101–126.
Shear CS, Nyhan WL, Kirman BH, Stern J (1971) Self-mutilative behavior as a feature of the de Lange syndrome. J Pediatr 78: 506–509.
Spitz JL (2005) Genodermatoses. A Clinical Guide to Genetic Skin Disorders. Philadelphia: Lippincott Williams & Wilkins.
Sugarman JL (2004) Epidermal nevus syndromes. Semin Cut Med Surg 23: 145–157.
Tang TT, McCreadie SR (1974) Congenital hemidysplasia with ichthyosis. Birth Defects Orig Art Ser 10: 257–261.
Taybi H (1996) Child syndrome. In: Taybi H, Lachman RS (eds.) Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasia. 4th ed. St. Louis: Mosby, pp. 84–85.
Vidaurri-de la Cruz H, Tamayo-Sanchez L, Duran McKinster C, Orozco-Covarrubias L, Ruiz-Maldonado R (2004) Epidermal nevus syndromes: clinical findings in 35 patients. Pediatr Dermatol 21: 432–439.
Vujevich JJ, Mancini AJ (2004) The epidermal nevus syndromes: multisystem disorders. J Am Acad Dermatol 50: 957–961.
Zellweger H, Uehlinger E (1948) Ein Fall von halbseitiger Knochencondromotase (Ollier) mit Naevus ichthyosiform. Helvet Paediatr Acta 2: 153–163.
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Ruiz-Maldonado, R., Orozco-Covarrubias, L., Duran-McKinster, C., Saez-De-Ocariz, M. (2008). Child Syndrome. In: Ruggieri, M., Pascual-Castroviejo, I., Di Rocco, C. (eds) Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes. Springer, Vienna. https://doi.org/10.1007/978-3-211-69500-5_37
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DOI: https://doi.org/10.1007/978-3-211-69500-5_37
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