CHILD syndrome

Classification according to ICD-10
Q87.8	Other specified congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

The CHILD syndrome is a very rare congenital disease belonging to genodermatoses with the main features of erythroderma affecting only one half of the body , and malformations of the limbs and anomalies of internal organs .

The acronym stands for C ongenitale H emidysplasie with I chthyosiformen nevi and L IMB (limbs) D performance effects.

Synonyms are: hemidysplasia, congenital - erythroderma ichthyosiformis - limb anomalies ; english ICHTHYOSIFORM ERYTHRODERMA, UNILATERAL, WITH IPSILATERAL MALFORMATIONS, ESPECIALLY ABSENCE DEFORMITY OF LIMBS

The name was coined in 1980 by the German dermatologist Rudolf Happle .

The first description comes from 1968 by the American human geneticist Arthur Falek and colleagues.

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is largely X-linked dominant .

About 60 patients have been described to date. The female gender is almost exclusively affected.

root cause

For the male sex, the disease is mostly due to lethal mutations in the NSDHL gene at gene location Xq28, which codes for an enzyme involved in cholesterol biosynthesis .

Clinical manifestations

Clinical criteria are:

Start from birth or the first months of life
Unilateral ichthyosiform dermatitis (yellow spots) with erythema , especially in the skin folds. The face is usually not affected.
Spotty participation of the opposite side possible
Often claw-like nail dystrophy with circumscribed hyperkeratoses
Ipsilateral punctiform calcifications of the epiphyses in the first months of life (on the X-ray ), hypoplasia or aplasia of skeletal parts
Anomalies of the heart , kidneys ( hydronephrosis , renal agenesis ), lungs ( pulmonary hypoplasia )

In addition to scoliosis , joint contractures and other changes occur.

Differential diagnosis

The following are to be distinguished:

literature

Z. Yang, B. Hartmann, Z. Xu, L. Ma, R. Happle, N. Schlipf, LX Zhang, ZG Xu, ZY Wang, J. Fischer: Large Deletions in the NSDHL Gene in Two Patients with CHILD Syndrome. In: Acta Dermato-Venereologica . Vol. 95, No. 8, November 2015, pp. 1007-1008, doi: 10.2340 / 00015555-2143 , PMID 26014843 .
A. Alexopoulos, T. Kakourou: CHILD Syndrome: Successful Treatment of Skin Lesions with Topical Simvastatin / Cholesterol Ointment-A Case Report. In: Pediatric Dermatology . Vol. 32, No. 4, 2015 Jul – Aug, pp. E145 – e147, doi: 10.1111 / pde.12587 , PMID 25845514 .
C. Peter, P. Meinecke: CHILD syndrome: case report of a rare genodermatosis. In: The dermatologist ; Journal of Dermatology, Venereology, and Allied Fields. Vol. 44, No. 9, September 1993, pp. 590-593, PMID 8407327 .

Individual evidence

↑ ^a ^b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
↑ ^a ^b ^c CHILD syndrome. In: Orphanet (Rare Disease Database).
^ R. Happle, H. Koch, W. Lenz: The CHILD syndrome. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects. In: European Journal of Pediatrics. Vol. 134, No. 1, June 1980, pp. 27-33, PMID 7408908 .
↑ A. Falek, CW Heath, AJ Ebbin, WR McLean: Unilateral limb and skin deformities with congenital heart disease in two siblings: a lethal syndrome. In: The Journal of Pediatrics . Vol. 73, No. 6, December 1968, pp. 910-913, PMID 5696317 .
↑ CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS. In: Online Mendelian Inheritance in Man . (English)
↑ Syndrome of the linear nevus sebaceus. In: Orphanet (Rare Disease Database).
↑ Epidermal nevus, inflammatory linear verrucous. In: Orphanet (Rare Disease Database).

[Leiber-1] Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .

[Orpha-2] CHILD syndrome. In: Orphanet (Rare Disease Database).

[3] R. Happle, H. Koch, W. Lenz: The CHILD syndrome. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects. In: European Journal of Pediatrics. Vol. 134, No. 1, June 1980, pp. 27-33, PMID 7408908 .

[4] A. Falek, CW Heath, AJ Ebbin, WR McLean: Unilateral limb and skin deformities with congenital heart disease in two siblings: a lethal syndrome. In: The Journal of Pediatrics . Vol. 73, No. 6, December 1968, pp. 910-913, PMID 5696317 .

[5] CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS. In: Online Mendelian Inheritance in Man . (English)

[6] Syndrome of the linear nevus sebaceus. In: Orphanet (Rare Disease Database).

[7] Epidermal nevus, inflammatory linear verrucous. In: Orphanet (Rare Disease Database).