Abstract
Introduction
CHILD Syndrome as proposed by Happle et al.1 in 1980 as an acronym to represent a particular phenotype within the heterogenous group of epidermic nevi syndromes characterised by the three main alterations that is Congenital Hemidysplasia, Icthyosiform erythroderma and Limb Defects. Same author, in 1987, replaced the term icthyosiform erythroderma by icthyosiform nevus (CHILD nevus). CHILD syndrome represents a rare multisystemic disorder with only about 60 cases reported in literature till date.2Inherited as X-linked dominant trait, it carries lethality for male embryos. The underlying mutations of the NSDHL gene (NAD[P] H steroid dehydrogenase–like protein) at Xq28 (Online Mendelian Inheritance in Man300275) involve the cholesterol biosyntheticpathway.3Characteristic clinical featuresare a peculiar inflammatory skin disorder called CHILD nevus, with aunique lateralization pattern with strictmidline demarcation and ptychotropism (affinity to body folds).4 Associated ipsilateral extracutaneous defects in the form of hypoplasia or aplasia may involve the limbsand other skeletal structures, as well as the viscera, such as lung, heart, and kidney.1
References
- Happle R, Koch H, Lenz W. The CHILD syndrome: Congenital hemidysplasia with ichtyosiform erythroderma and limb defects. Eur J Pediatr.1980; 134: 27-33.
- Chander R, Varghese B, Jabeen M, etal. CHILD syndrome with thrombocytosis and congenital dislocation of hip: A case report from India. Dermatology Online Journal 2010; 16(8):6.
- Caldas H, Herman G. NSDHL, an enzyme involved in cholesterol biosynthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid droplets. Hum Mol Genet 2003; 12(22): 2981-2991.
- Happle R. Ptychotropism as a Cutaneous feature of the CHILD syndrome. J Am Dermatol1990; 23:763-766.
- Hummel M, Cunningham D, Mullett CJ, Kelley RI, Herman GE. Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene. Am J Med Genet. 2003; 122A (3):246-51.
- Emani S, Rizzo WB, Hanley KP, Taylor JM, Goldyne ME, Willians ML. Peroxisomal abnormality in fibroblasts from involved shin of CHILD syndrome: Case study and review of peroxisomal disorders in relation to skin disease. Arch Dermatol. 1992; 128: 1213- 22.
- Grange DK, Kratz LE, Braverman NE, Kelley RI. CHILD syndrome caused by deficiency of 3-beta-hydroxysteroid-delta-8, delta-7-isomerase. Am J Med Genet. 2000; 90: 328-35.
- Bornholdt D, König A, Happle R, Leveleki L, Bittar M, Danarti R, Vahlquist A, Tilgen W, Reinhold U, PoiaresBaptista A, Grosshans E, Vabres P, Niiyama S, Sasaoka K, Tanaka T, Meiss AL, Treadwell PA, Lambert D, Camacho F, Grzeschik KH. Mutational spectrum of NSDHL in CHILD syndrome. J Med Genet. 2005; 42: e17.
- Happle R, Mittag H, Kuster W. The CHILD nevus: a distinct skin disorder. Dermatology1995; 191: 210-216.
- Happle R. The group of epidermal nevus syndromes capsule summary. Journal of the American Academy of Dermatology 2010; 63(1):1-22.
- Bittar M, Happle R, Grzeschik KH. CHILD syndrome in 3 generations. Arch Dermatol. 2006;142(3):348-351.
- Konig A, Happle R, Fink-Puches R, Soyer HP, Bornholdt D, Engel H, et al. A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement. J Am AcadDermatol. 2002; 46: 594-6.
- Hebert AA, Esterly NB, Holbrook KA, Hall JC. The CHILD syndrome: histologic and ultrastructural studies. Arch Dermatol. 1987; 123: 503-9.
- Falek A, Heath CW, Ebbin AJ, McLean WR. Unilateral limb and skin deformities with congenital heart disease in two siblings: A lethal syndrome. J Pediatr. 1968; 73: 910-3.
- Happle R. Epidermal nevus syndromes. Semin Dermatol. 1995; 14: 111- 21.
Corresponding Author
Dr Amit Chauhan
Ex resident, Department of Dermatology, Indira Gandhi Medical College, Shimla, HP
DOI: https://dx.doi.org/10.18535/jmscr/v7i8.12
