Ichthyosiform Erythroderma, a Multifaceted Syndromic Entity.

1. Luis F. Sanchez-Espino, MD*,† 2. Claudia I. Gil-Tellez, MD* 3. Consuelo Cantu-Reyna, MD* 4. Cesar A. Martinez-Longoria, MD* 1. *Instituto de Seguridad Social para los trabajadores del Estado de Nuevo Leon (ISSSTELEON), Hospital San Jose del Tecnologico de Monterrey, Mexico 2. †Department of Pediatrics, Tecnologico de Monterrey, School of Medicine and Health Science, Mexico A 7-month-old boy presents to our clinic with a 4-month history of a progressive and persistent generalized exanthema that began on the trunk and spread to the extremities. The patient is the firstborn of healthy, nonrelated parents with no relevant past medical history. The infant was born prematurely at 34 weeks’ gestation due to preterm labor and had a short and uncomplicated course in the NICU for respiratory distress. Prior to discharge, the perinatal hearing screening test results were abnormal, and he was referred for additional testing. Developmental milestones were not achieved by the end of the first and third months; the infant could not recognize his parents’ voices or smile in response to familiar sounds. Developmental delay persisted throughout his first year, mainly in the fine motor, cognitive, and social skills. However, many of the expected milestones had been reached by 15 months of age, except for some deficit in language and communication skills. During his primary care visits, his weight has ranged between the 3rd and 10th percentiles, whereas his length and head circumference have been normal. The exanthema is initially considered to be of allergic origin, prompting the trial of various hydrolyzed and elemental formulas without improvement. Between 7 and 14 months of age, the eczematous dermatosis is persistent despite treatment with multiple keratolytics, carbamides, steroid, antifungal treatment, and bacteriostatic ointments. At 18 months of age, the physical examination is remarkable for a generalized dermatosis (Figs 1–3) with extensive erythroderma, keratotic plaques, palmoplantar keratoderma, inflammation of the lips, alopecia, and nail dystrophy (Fig 4). There is oral and genital involvement. Laboratory evaluation includes a white blood cell count of 23,400/µL (23.4 × 109/L), with an eosinophil count of 17,000/µL (17.0 × 109/L), and IgE levels of 296 UI/mL. Skin, hair, and scalp biopsies show diffuse …