Eczematous dermatitis and thrombocytopenia in a 10‐month‐old boy

A 10-month-old boy was first attended in the Dermatology Department. He second son of nonconsanguineous parents. Family history only relevant for hand eczema his mother and patient had no remarkable personal antecedents. However, he suffered from eczematous lesions since week life. His condition never completely clear, despite continued use topical corticosteroids, bleach baths antibiotics. On examination, presented well-defined, erythematous, exudative plaques on diaper area, inguinal axillary folds, retroauricular region (Figure 1a,b). Papular nummular were also distributed face, trunk extremities 1c,d). An intensive regimen based oral corticosteroids antibiotics (gentamycin mupirocin) partly effective, but complete resolution not achieved. At age 11 months, admitted because spontaneous haematomas, bilateral bloody otorrhea epistaxis. physical isolated purpuric widespread, exudative, seen 2). Blood tests showed thrombocytopenia (58 × 1000/μl; normal values [NVs]: 150–400), mild lymphopenia (2.2 NV: 3.5–11.0), anaemia (9.5 g/dl; 10.4–12.8) elevated IgE (242 kU/L; 0–30). Serum immunoglobulin levels low IgM (7 mg/dl; 40–200). In addition, basic lymphocyte subsets proliferation test normal, except decreased CD8+ T cells (154 cells/μl, 5%; 500–1800, 13%–30%). targeted gene panel identified a pathogenic variant WAS X-chromosome (chrX: 48545241c.631C>Tp. Arg211Ter), leading to truncated protein (WASP); is carrier this mutation. The now 16 months. has undergone haematopoietic stem cell transplantation (HSCT) an unrelated HLA-matched donor chimerism; platelet count returned disappeared 2 months after transplant. X-linked recessive disorder caused by mutations resulting absence WASP, exclusively present all hematopoietic linage cells. This plays important role both reorganization cytoskeleton signalling, its deficiency cellular humoral deficiencies, mainly related cells.1 characterized with small platelets, recurrent infections immunodeficiency increased incidence autoimmunity malignancies.2 Only minority patients triad at same time there considerable heterogeneity manifestations presenting signs.1 Microthrombocytopenia most consistent feature responsible bleeding diathesis.2 Its range petechiae severe haematomas even life-threatening intestinal or intracranial haemorrhage.3 Cutaneous are clue diagnosis WAS. These include purpura (petechiae, ecchymoses), pyogenic recalcitrant dermatitis.1 usually appears during life can be indistinguishable atopic dermatitis. flexural areas, scalp face severely affected, although widespread involvement seen.1 Due thrombocytopenia, serosanguineous crusting excoriated may occur.4 Management tailored clinical degree severity. Regarding eczema, treatment careful vigilance possible bacterial, viral fungal overinfection eczema.3 phenotypes, allogeneic HSCT choice, as it potentially curative,3 excellent outcome survival if carried out under 5 years matched donor.2 Dermatitis often resolves within few weeks HSCT1 good T-cell engraftment.5 Prevention trauma episodes necessary.1 recent advances therapy make interesting option when available belongs heterogeneous group inherited errors immunity (IEI), defects innate and/or adaptive immune responses.6 skin IEI, many these characteristic eruptions that, setting, suggest specific diagnosis. IEI nonspecific inflammatory including granulomatous nodules, nonhealing ulcers dermatitis.6 latter common finding among several such hyper-IgE syndromes WAS.7 Nevertheless, IEI-associated dermatitis distinct features depending underlying cause inspection close attention distribution, morphology symptoms helpful establishing appropriate differential directing subsequent laboratory evaluations.6 Treatment resistance along other extracutaneous noted medical cutaneous infections, diarrhoea, failure thrive, cytopenias, diathesis, autoimmune phenomena alopecia areata family suggestive immunodeficiency, should raise suspicion IEI.6-8 our case, early-onset, coupled haemorrhagic male infant suggested Early paramount early prevent morbidity fatal outcome. We indebted patient's parents granting permission publish photographs. authors declare that conflict interests. information case report retrieved retrospectively according regulations Ethics Committee hospital. caregivers study have given written informed consent publication their details. All contributed conception design study. Data sharing applicable article, data sets generated analysed current