CHILD syndrome with mild skin lesions: histopathologic clues for the diagnosis.

[child syndrome]

CHILD syndrome is an acronym signifying congenital hemidysplasia with ichthyosiform nevus and limb defects . A 27 -year -old woman presented with chronic verrucous and hyperkeratotic skin lesions involving the left genital area , left hand and left foot since childhood . The histopathologic findings were consistent with verruciform xanthoma . In correlation with the clinical picture of a linear lesion , the diagnosis of CHILD nevus was made . Subsequent genetic analysis identified a germline c .324 C >T (p .A 105 V ) NSDHL mutation and confirmed a diagnosis of CHILD syndrome . This syndrome can be associated with only minimal clinical symptoms . The anatomical distribution of the lesions , a static clinical course and the typical histopathologic features of a CHILD nevus can serve as the clue to a diagnosis of CHILD syndrome in such cases .

Diseases
Validation

Diseases presenting "skin lesions" symptom

child syndrome

cowden syndrome

cutaneous mastocytosis

cystinuria

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

erdheim-chester disease

erythropoietic protoporphyria

familial mediterranean fever

focal myositis

gm1 gangliosidosis

heparin-induced thrombocytopenia

hirschsprung disease

junctional epidermolysis bullosa

lamellar ichthyosis

liposarcoma

lymphangioleiomyomatosis

malignant atrophic papulosis

oligodontia

omenn syndrome

papillon-lefèvre syndrome

primary effusion lymphoma

proteus syndrome

severe combined immunodeficiency

sneddon syndrome

waldenström macroglobulinemia

werner syndrome

wiskott-aldrich syndrome

You can validate or delete this automatically detected symptom