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Year : 2020  |  Volume : 21  |  Issue : 2  |  Page : 132-134

CHILD syndrome: A rare case report

Department of Dermatology, Venereology and Leprology, R. N. T. Medical College, Udaipur, Rajasthan, India

Date of Submission08-Jan-2020
Date of Decision30-Jan-2020
Date of Acceptance21-Feb-2020
Date of Web Publication01-Apr-2020

Correspondence Address:
Rekha Virath
Department of Dermatology, Venereology and Leprology, R. N. T. Medical College, Udaipur - 313 001, Rajasthan
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijpd.IJPD_5_20

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CHILD syndrome is a rare unilateral icthyosiform naevus, characterized by congenital hemidysplasia with icthyosiform erythroderma and limb defect. It is inherited as X- linked dominant trait with lethality for male embryo. We report a case of 9-year-old female child with right sided patchy psoriasiform epidermal nevus and ipsilateral limb defect. The rarity of the syndrome prompted us to report this case.

Keywords: CHILD syndrome, congenital hemidysplasia, ichthyosiform erythroderma, limb defect

How to cite this article:
Mehta S, Mittal AK, Balai M, Virath R. CHILD syndrome: A rare case report. Indian J Paediatr Dermatol 2020;21:132-4

How to cite this URL:
Mehta S, Mittal AK, Balai M, Virath R. CHILD syndrome: A rare case report. Indian J Paediatr Dermatol [serial online] 2020 [cited 2020 Dec 4];21:132-4. Available from: https://www.ijpd.in/text.asp?2020/21/2/132/281736

  Introduction Top

The term CHILD syndrome was proposed as an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defect (CHILD).[1] It is a rare X-linked dominant disorder. It is characterized by missense mutation of the NADPH steroid dehydrogenase-like (NSDHL) gene leading to defect in cholesterol synthesis.[2] The characteristic skin changes are unilateral, waxy scaly, ichthyosiform, and erythematous plaques with a sharp midline demarcation present at birth or shortly thereafter. Ipsilateral hypoplasia or aplasia of skeletal or viscera structures may be seen.[1] Herein, we report a case of CHILD syndrome in a 9-year-old female child affecting the right side of the body with ipsilateral limb defect.

  Case Report Top

A 9-year-old girl, the first child of a nonconsanguineous marriage, delivered full term by the vaginal route presented with limb defects involving the right side of the body. Within a few days of birth, she developed erythematous scaly lesion over the right groin. It then gradually progressed to involve the right neck, axilla, and popliteal fossa within a few months. She received topical preparations intermittently and lesion partially resolved with hyperpigmentation. Because of lower limb asymmetry, walking was very difficult and developed contractures of both lower limbs. No history of similar skin and limb abnormalities was in either parents or siblings. Cutaneous examination revealed multiple patchy sharply demarcated, erythematous, hyperkeratotic, scaly plaques on the right side of the neck, axilla, buttock, popliteal fossa, groin, and hand and foot including interdigital spaces [Figure 1]a and [Figure 1]b. Nail plates were dystrophic. Rest skin and mucosal examination were normal. Her mental development was normal. Her physical growth, social, and adaptive behavior was normal. Ophthalmological and otorhinolaryngological examination was normal.
Figure 1: (a) Erythematous, hyperkeratotic, scaly plaques on the right side of the body, (b) involvement of interdigital spaces of the right hand

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All routine laboratory investigations were normal except for anemia. X-ray of the chest and electrocardiogram were normal. Magnetic resonance imaging of the brain and ultrasonography of the abdomen and pelvis were also normal. Roentgenograms of extremities showed dislocation of the right femur head as well as contracture of the right foot [Figure 2]. Acro-osteolysis and contracture of distal phalanx of the right hand were also evident.
Figure 2: X-ray: Dislocation of the right femur of the head

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Histopathological examination of cutaneous lesion revealed hyperkeratosis, parakeratosis, hypogranulosis, irregular elongation of rete ridges, and mild perivascular mononuclear inflammatory cell infiltration [Figure 3].
Figure 3: Skin biopsy revealed hyperkeratosis, parakeratosis, hypogranulosis, irregular elongation of rete ridges, and mild perivascular mononuclear inflammatory cells infiltration (H and E, ×10)

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Genome sequencing could not be performed due to nonavailability and affordability issues. Based on clinical and histological findings, the final diagnosis of CHILD syndrome was made. The child was managed with oral methotrexate, topical corticosteroid, and emollients for skin lesions and she is on regular follow-up. The patient was advised to consult orthopedician for lower limb abnormality.

  Discussion Top

CHILD syndrome is a rare X-linked dominant disorder caused by mutation in the NSDHL gene at Xq28, which involves the cholesterol biosynthetic pathway. It usually affects the right side of the body. It has characteristic appearance with sharp midline demarcation of unilateral ichthyosiform or psoriasiform erythema of the trunk, usually present at birth. The most frequently affected areas are the vulva, axillae, and gluteal folds. Ptychotropism, or affinity for body folds, is common and described as distinctive feature.[3] Face and mucosa are spared. Ipsilateral hypoplasia or aplasia of skeletal or visceral structures such as the heart, kidney, brain, and lungs may be seen.[1] Skeletal abnormality is pathognomonic of CHILD syndrome and includes hypoplasia of digits to complete amelia. Histopathology reveals psoriasiform epidermal hyperplasia and sometimes features of verruciform xanthoma.[4]

The patchy distribution probably reflects mosaicism for a genetic disorder which is lethal if universal. The marked female preponderance suggests an X-linked gene with mosaicism resulting from lyonization in females or a somatic mutation in either sex. The condition is almost universally lethal in males. Familial cases could be the result of an unstable premutation or gonadal mosaicism.

The management of skin lesions in CHILD syndrome is difficult. Treatment with emollients, corticosteroid, and retinoids provides little relief. Paller et al.[5] recently reported an innovative and highly successful topical therapy comprising co-application of cholesterol 2% and lovastatin 2%, based on the role of NSDHL in cholesterol metabolism.

  Conclusion Top

“CHILD” applies to only the extreme (hemidysplastic) form of a rare condition, and this prompted us to report the case. The diagnosis of the syndrome is important for patient information and genetic counseling. Pathogenesis-based therapy is likely to bring hope to the patients of CHILD syndrome.[6],[7],[8]

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given her consent for her images and other clinical information to be reported in the journal. The patient understands that name and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Heda GD, Valivade V, Sanghavi P, Kukreja RM, Phulari YJ. CHILD syndrome. Indian J Venereol Leprol 2014;80:483.  Back to cited text no. 1
Mi XB, Luo MX, Guo LL, Zhang TD, Qiu XW. CHILD syndrome: Case report of a Chinese patient and literature review of the NAD[P] H steroid dehydrogenase-like protein gene mutation. Pediatr Dermatol 2015;32:e277-82.  Back to cited text no. 2
Happle R. Ptychotropism as a cutaneous feature of the CHILD syndrome. J Am Acad Dermatol 1990;23:763-6.  Back to cited text no. 3
Stiff KM, Cohen PR. Vegas (Verruciform Genital-Associated) Xanthoma: A Comprehensive Literature Review. Dermatol Ther (Heidelb) 2017;7:65-79.  Back to cited text no. 4
Paller AS, van Steensel MA, Rodriguez-Martín M, Sorrell J, Heath C, Crumrine D, et al. Pathogenesis-based therapy reverses cutaneous abnormalities in an inherited disorder of distal cholesterol metabolism. J Invest Dermatol 2011;131:2242-8.  Back to cited text no. 5
Alexopoulos A, Kakourou T. CHILD syndrome: Successful treatment of skin lesions with topical simvastatin/cholestrol ointment – A case report. Pediatr Dermatol 2015;34:145-7.  Back to cited text no. 6
Bergqvist C, Abdallah B, Hasbani DJ, Abbas O, Kibbi AG, Hamie L, et al. CHILD syndrome: A modified pathogenesis-targeted therapeutic approach. Am J Med Genet A 2018;176:733-8.  Back to cited text no. 7
Bajwi SM, Jafarri SA, Buraik MA, Attas KM, Hannami HY. Pathogenesis-based terapy: Cutaneous abnormalities of CHILD syndrome successfully treated with topical simavastatin monotherapy. J Am Acad Dermatol 2018;4:232-4.  Back to cited text no. 8


  [Figure 1], [Figure 2], [Figure 3]


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