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CHILD Syndrome

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CHILD Syndrome CHILD syndrome Author: Dr. Regina Fink-Puches1 Creation date: May 2004 Scientific Editor: Prof. Werner Aberer 1Department of Dermatology, Medical University of Graz, Auenbruggerplatz 8, A-8036 Graz. [email protected] Abstract Key words Synonyms Definition Frequency Genetics Clinical manifestations Diagnostic methods Management References Abstract The CHILD (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects) syndrome is a rare multisystem birth defect characterized by unilateral erythema and scaling, with a distinct demarcation in the middle of the trunk. The dermatosis is either present at birth or develops during the first weeks of life. Ipsilateral limb defects can vary from hypoplasia of some fingers to complete absence of an extremity. Ipsilateral hypoplasia of other parts of the skeleton, as well as defects of the brain and the viscera may be found. CHILD syndrome is an X-linked dominant, male-lethal trait caused by mutations in the gene NSDHL (NAD(P)H steroid dehydrogenase-like protein) localized at Xq28 and involved in cholesterol metabolism. Specific treatment is not available. The goal of therapies is to reduce morbidity and to prevent complications. Key words Congenital hemidysplasia, ichthyosiform nevus, limb defects, locus Xq28, ptychotropism, visceral defects, cardiovascular malformations Synonyms Definition Congenital Hemidysplasia with Ichthyosiform CHILD syndrome is a rare disorder nevus and Limb Defects. characterized by congenital hemidysplasia (CH), Originally, the term CHILD syndrome was ichthyosiform skin lesions (I), and limb defects proposed as an acronym for Congenital (LD) [2]. Hemidysplasia with Ichthyosiform Erythroderma The first description of CHILD syndrome dates and Limb Defects. Soon it became evident that back to 1903 when Otto Sachs reported a the unilateral skin lesions in this syndrome female patient with a “xanthoma-like nevus” should be classified more appropriately as a involving the right axillary region and a nevus. Therefore a modified interpretation of the congenital muscular weakness of the right upper acronym was proposed: congenital arm [3]. hemidysplasia with ichthyosiform nevus and limb Frequency defect [1]. No precise data are available regarding the frequency of the disease, however CHILD syndrome is rare; 30 cases have been described in the literature. Fink-Puches R. CHILD syndrome. Orphanet Encyclopedia. May 2004. http://www.orpha.net/data/patho/GB/uk-Child.pdf 1 in the dermis. The histopathological features are Genetics very similar to psoriasis. The syndrome is labelled as OMIM 308050. CHILD syndrome is an X-linked dominant, male- Ipsilateral Bone Anomalies lethal trait caused by mutations in the gene The severity of limb defects may vary from NSDHL (NAD[P]H steroid dehydrogenase-like hypoplasia of some metacarpals or phalanges to protein, OMIM 300275) located at Xq28 and complete absence of an extremity. Hypoplasia of encoding a 3ß-hydroxysteroid dehydrogenase long bones may result in contractures. Unilateral involved in the cholesterol biosynthetic pathway hypoplasia of bones may involve any other part [4]. The genotype in CHILD syndrome is of the skeleton: calvarium, mandible, scapula, explained by the Lyon hypothesis. Random clavicle, and ribs. Scoliosis may be due to the inactivation of one of the two X chromosomes in asymmetry of limbs as well as to genuine female cells and daughter clonal populations vertebral defects. Nonspecific punctate results in mosaicism that manifests in the calcifications of cartilage may be observed [2]. Blaschko lines (lines that represent dorsal to ventral migration tracks of precursor cells from Ipsilateral Central Nervous System the primitive streak). As an exception to the rule Anomalies that the CHILD syndrome is observed only in Unilateral hypoplasia of the brain has been females, Zellweger and Uehlinger paradoxically reported as well as hypoplasia of cranial nerves described this X-linked phenotype in a boy in and of the spinal cord. Intellectual impairment or 1948 [5]. Furthermore, a 2-year-old boy was decreased sensation to touch and heat on the described by Happle et al. [6], who stated that affected side has been observed [2]. such cases can be best explained either by a postzygotic mutation or by a gametic half- Ipsilateral Anomalies of Viscera chromatid mutation [6]. Early death of patients affected with CHILD syndrome is mostly due to cardiovascular Clinical manifestations malformations. Septum defects of both atrium CHILD syndrome is a multisystem birth defect and ventricle have been reported. Only one usually showing a striking lateralization pattern. coronary ostium has been described. An unusual case of CHILD syndrome with Further visceral defects include hydronephrosis bilateral manifestations of the epidermal nevus and hydroureter, absence of the ipsilateral has been described [7]. kidney and hypoplasia of the lung. Other organs as thyroid, adrenal, ovary and fallopian tube Skin might be involved [2]. The CHILD nevus is a hallmark of the CHILD syndrome but may also occur as an isolated skin Contralateral Anomalies disorder. It is an epidermal nevus characterized The unilateral distribution is not absolute. Minor by yellow, waxy scaling and by a unique pattern anomalies of skin, bones or viscera may be of distribution consisting of two components, a observed also on the opposite side of the body. diffuse involvement of one half of the body and a band-like arrangement following the lines of Miscellaneous Anomalies Blaschko. The ichthyosiform nevus displays a Umbilical hernia, cleft lip and bilateral minimal pronounced affinity for the body folds hearing loss have been reported. (ptychotropism) [8]. Right side involvement occurs twice as often as left side involvement Diagnostic methods One case of CHILD syndrome with a strikingly Skin biopsy samples from involved skin areas symmetrical involvement of the large body folds should be taken. (ptychotropism) has been reported [7]. Radiographic examination of the head, trunk and Hyperkeratosis and dystrophic changes of the the extremities is essential to detect any skeletal nails and impaired hair growth with ipsilateral abnormalities. Computerized tomography of the linear alopecia have been reported. head and the trunk may reveal hypoplasia or aplasia of the brain and/or viscera. Histopathologic features Echoencephalography is needed for examination The epidermis from involved skin shows marked of the ventricles. acanthosis with zones of parakeratosis and areas of orthohyperkeratosis. There is exocytosis of neutrophils that tend to form Management accumulations in the stratum corneum. Goal of therapies is to reduce morbidity and to Scattered lymphohistiocytic infiltrates are found prevent complications (cardiac defects; central nervous system; skeletal, kidney, lung and other visceral defects). Fink-Puches R. CHILD syndrome. Orphanet Encyclopedia. May 2004. http://www.orpha.net/data/patho/GB/uk-Child.pdf 2 Regarding the skin, the use of emollients is encoding a 3 β-hydroxysteroid dehydrogenase, recommended. Resection of affected skin cause CHILD syndrome. Am J Med Genet 2000; proved to be effective [7]. 90: 339-46. 5. Zellweger H, Uehlinger E. Ein Fall von halbseitiger Knochenchondromatose (Ollier) mit References Naevus ichthyosiformis. Helvet Paediatr Acta 1948; 2: 153-63. 1. Happle R, Mittag H, Küster W. The 6. Happle R, Effendy I, Megahed M, Orlow CHILD nevus: a distinct skin disorder. SJ, Küster W. CHILD syndrome in a boy. Am J Dermatology 1995; 191: 210-6. Med Genet 1996; 62: 192-4. 2. Happle R, Koch H, Lenz W. The CHILD 7. Fink-Puches R, Soyer HP, Pierer G, Kerl syndrome: congenital hemidysplasia with H, Happle R. Systematized inflammatory ichthyosiform erythroderma and limb defects. epidermal nevus with symmetrical involvement: Eur J Pediatr 1980; 134: 27-33. an unusual case of CHILD syndrome? J Am 3. Bittar,M, Happle R. CHILD syndrome Acad Dermatol 1997; 36: 823-6. avant la lettre. J Am Acad Dermatol 2004; 50: 8. Happle,R. Ptychotropism as a cutaneous S34-7. feature of the CHILD syndrome. J Am Acad 4. König A, Happle R, Bornholdt D, Engel Dermatol 1990; 23: 763-6. H, Grzeschik KH. Mutations in the NSDHL gene, Fink-Puches R. CHILD syndrome. Orphanet Encyclopedia. May 2004. http://www.orpha.net/data/patho/GB/uk-Child.pdf 3 .
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