First case of dizygotic twins with lamellar ichthyosis in Puerto Rico.

[lamellar ichthyosis]

Lamellar Ichthyosis is a rare condition requiring thickened collodion-like skin for clinical diagnosis . These infants have abnormal epidermal barrier , which leads to serious complications . It may present with extensive skin lesions and should be considered a diagnostic possibility in sick neonates . Recent studies have identified a condition characterized by deficiency of the interleukin-1 receptor antagonist (DIRA ) resembling Ichthyosis . We report dizygotic twins that presented lamellar ichthyosis . Twin #1 had a neonatal period complicated with sepsis , fungemia and urinary tract infection . Twin #2 had sepsis , urinary tract infection and conjunctivitis . We tested the parents and one patient for DIRA . Tests were negative . To our knowledge , this is the first case of dizygotic twins that presented with lamellar ichthyosis in Puerto Rico . Physicians should include DIRA in the differential diagnosis of skin lesions in newborns .

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

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