Generalized morphea in a child with harlequin ichthyosis: a rare association

• Published in: Revista brasileira de reumatologia (English Ed.). Vol. 56; no. 1; p. 82
• Main Authors: Giacomin, Maria F A, França, Camila M P, Oliveira, Zilda N P, Machado, Maria C R, Sallum, Adriana M E, Silva, Clovis A
• Format: Journal Article
• Language: English
• Published: Brazil 01-01-2016
• Subjects: Acitretin; Child, Preschool; Ectropion; Female; Humans; Ichthyosis, Lamellar - complications; Ichthyosis, Lamellar - diagnosis; Ichthyosis, Lamellar - drug therapy; Scleroderma, Localized - complications; Scleroderma, Localized - diagnosis; Scleroderma, Localized - drug therapy; Skin; Morphea; Esclerodermia; Ictiose arlequim; Harlequin ichthyosis; Morfeia; Children; Crianças; Scleroderma
• ISSN: 2255-5021
• DOI: 10.1016/j.rbre.2014.05.004

Harlequin ichthyosis (HI) is a severe and rare hereditary congenital skin disorder characterized by excessive dryness, ectropion and eclabion. The association of ichthyosis with systemic sclerosis has been described in only three children. No patient with generalized morphea (GM) associated with harlequin ichthyosis was described.
A 4-years and 6-months girl, diagnosed with harlequin ichthyosis based on diffuse cutaneous thickening, scaling, erythema, ectropion and eclabium since the first hours of birth was described. She was treated with acitretin (1.0mg/kg/day) and emollient cream. At 3 years and 9 months, she developed muscle contractures with pain on motion and limitation in elbows and knees, and diffuse sclerodermic plaques on the abdomen, back, suprapubic area and lower limbs. Skin biopsy showed rectified epidermis and mild hyperorthokeratosis, reticular dermis with perivascular and periadnexal infiltrates of lymphocytes and mononuclear cells, and reticular dermis and sweat gland sclerosis surrounded by a dense collagen tissue, compatible with scleroderma. The patient fulfilled the GM subtype criteria. Methotrexate and prednisone were introduced. At 4 years and 3 months, new scleroderma lesions occurred and azathioprine was associated with previous therapy, with no apparent changes after two months.
A case of harlequin ichthyosis associated with a GM was reported. The treatment of these two conditions is a challenge and requires a multidisciplinary team.