Case History/Examination
Аn 8-year-old boy, born from a second normal pregnancy, with no history of collodion membrane at birth, was admitted to the neonatology ward at 5 days of age for generalized skin erythema with fine scaling. His cutaneous eruption was complicated by a secondary infection. A diagnosis of erythrodermia ichthyosiformis congenita was rendered (Figure 1). Subsequently, he was repeatedly hospitalized for cutaneous flares, which manifested with severe erythroderma with areas with fissures and erosions with serous exudate (Figure 2). Because of the severe pruritus, intravenous treatments with antibiotics and human albumin, topical corticosteroids, emollients, and oral antihistamines were administered. Despite this treatment, the pruritus and the severe erythrodermic state involving the trunk, limbs, the head, and ears were unaltered. The child’s hair was sparse, lusterless, brittle, and fragile. Trichoscopy revealed trichorrhexis invaginata, plus golf tee and matchstick hairs (Figure 3). The nails were without eponychium. Over the years, he suffered from acute tubulo-interstitial nephritis, chickenpox, bronchiolitis, and pneumonia. Genetic testing subsequently confirmed two mutations in the SPINK5 gene: the pathogenic variant NM _006846.3:c. 1530C > A p.(Cys510Ter) and the probable pathogenic variant c.420del p(Ser141ProfaTer5). Systemic treatment with acitretin, oral cholecaciferol, antihistamines and emollients was initiated. After three months of therapy with acitretin, only worsening of the dermatologic condition was observed, and this therapy was terminated.
At 8 years of age, the child was readmitted to the pediatric clinic with fever up to 39 degrees Celsius for two weeks, with a flare of his cutaneous eruption, evidence of leukocytosis and increased inflammatory activity, with inconclusive evidence of pneumonia from the radiographs. The boy weighed 21 kg (5 P, -1.68 z) with a height of 122 cm (11 P, -1.23 z), and a BMI of 11 P, -1. Axillary and inguinal lymph nodes were enlarged in the form of protruding bundles, with a soft-elastic consistency, slightly painful on palpation. Respiration was attenuated vesicular, with fine crackles in the left base. The heart rate and rhythm were normal, with a holosystolic murmur 3/6 degrees at the left sternal border. There was a hepatomegaly with a sharp liver border at 3 cm below the costal margin, firm consistency, not painful on palpation. The spleen was not enlarged.