A Child with Skin Rash, Brittle Hair, and Recurrent Infections (Questions)

A 2.9-year-old boy presented with a generalized skin rash, noticed since early infancy. However, there was no desquamating/peeling skin lesions at birth as per mother. The lesions were waxing and waning. The lesions were present all over the body including trunk and upper and lower limbs. In addition, the child was suffering from recurrent upper respiratory tract infections, as well as poor hair growth over the scalp. There was no history of chronic or recurrent fever, recurrent loose stools, bleeding manifestations, or icterus. There was no significant medical and surgical illness in the past, except for a history of receiving a blood transfusion 2 months back, for hemoglobin of 5 g/dL, as per parents. The child was the first born out of a nonconsanguineous marriage, delivered at term, with an uneventful antenatal, natal, and postnatal period. There was no family history of skin disorder, eczema, asthma, or atopy. The child had attained his developmental milestones appropriately. His nutrition was average and immunization was complete according to age. On examination, the child was afebrile with a weight of 8.6 kg with a height of 70.8 cm, suggestive of failure to thrive. He had mild pallor, but no icterus, cyanosis, clubbing, pedal edema, or lymphadenopathy. Vitals were stable with pulse of 108/min, respiratory rate of 28/min, and blood pressure of 100/54 mmHg. Cutaneous examination revealed a characteristic erythematous polycyclic and serpiginous rash with double-edged scaling [Image 1]. The rash was present over both upper and lower limbs (both flexor and extensor aspects) and back. The hairs on the scalp were sparse, short, brittle, and lustreless [Image 2]. Eyebrows, oral commissures, palms, and soles were normal. There were no vesicles, bullae, or pyoderma. The systemic examination was unremarkable.Image 1Image 2Investigations revealed hemoglobin of 11.5 g/dL, total leukocyte count of 20,680/mm3, neutrophils of 50%, lymphocytes of 36%, eosinophils of 10% (absolute eosinophil count of 2.07 × 103/μL), and total immunoglobulin E (IgE) level >2500 IU/mL (normal 0–60). Rest all routine investigations including liver and kidney function tests and serum electrolytes were within normal limit. However, antinuclear antibody and thyroid function tests could not be done. Image 3 shows the microscopic examination of hair with a typical appearance. Thus, the combined presence of this classical skin rash, typical hair microscopic appearance with a history of recurrent upper respiratory tract infections, and elevated IgE lead to a diagnosis.Image 3Questions Identify the classical skin rash shown in Image 1? Identify the typical microscopic picture of the hair shaft shown in Image 3 What is the diagnosis? Name the genetic defect responsible for this syndrome. Answers to the questions may be mailed by readers at [email protected]. The answers of the questions along with the name and affiliation of the sender of the first correct response will be published in the subsequent issue of IPCaRes, in the section of the Clinical Quiz (Answers).Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.