title: Diffuse cutaneous mastocytosis masquerading as epidermolysis bullosa.
abstract: A 10-month-old boy presented with a history of a generalized cutaneous bullous eruption since 3 months of age. Emesis, flush, pruritus, and fatigue had accompanied relapsing episodes of sometimes extensive blistering. Histopathology showed dense dermal infiltrates of mast cells on hematoxylin and eosin and corroborating immunohistochemical staining. Laboratory examination revealed a markedly high level of serum tryptase. Based on these results and after consecutive staging, the patient was diagnosed with diffuse cutaneous bullous mastocytosis (BM). Mutation analysis detected a deletion mutation (del419) in C-Kit by direct exon sequencing. This rare entity must be considered in the differential diagnosis whenever a child presents with bullae and erosions. A crucial diagnostic hint is that rubbing of affected skin areas results in whealing (Darier's sign). A comprehensive diagnostic approach, advanced therapeutic strategies, regular follow-ups, and instruction of patients and relatives on prevention and prophylaxis are highly indicated.
authors.affiliation: Department of Dermatology, Paracelsus Medical University Salzburg, Austria.
authors.forename: Kristin
authors.initials: K
authors.lastname: Kleewein
authors.affiliation: Department of Dermatology, Paracelsus Medical University Salzburg, Austria.
authors.forename: Roland
authors.initials: R
authors.lastname: Lang
authors.affiliation: Department of Dermatology, Paracelsus Medical University Salzburg, Austria.
authors.forename: Anja
authors.initials: A
authors.lastname: Diem
authors.affiliation: Department of Dermatology, Nuremberg Hospital North, Nuermberg, Germany.
authors.forename: Tobias
authors.initials: T
authors.lastname: Vogel
authors.affiliation: Department of Dermatology, Paracelsus Medical University Salzburg, Austria.
authors.forename: Gabriela
authors.initials: G
authors.lastname: Pohla-Gubo
authors.affiliation: Department of Dermatology, Paracelsus Medical University Salzburg, Austria.
authors.forename: Johann W
authors.initials: JW
authors.lastname: Bauer
authors.affiliation: Department of Dermatology, Paracelsus Medical University Salzburg, Austria.
authors.forename: Helmut
authors.initials: H
authors.lastname: Hintner
authors.affiliation: Department of Dermatology, Paracelsus Medical University Salzburg, Austria.
authors.forename: Martin
authors.initials: M
authors.lastname: Laimer
mesh_terms: D003879:Dermatologic Agents; D003937:Diagnosis, Differential; D004359:Drug Therapy, Combination; D004820:Epidermolysis Bullosa / Q000175:diagnosis*; D005091:Exons; D005221:Fatigue / Q000175:diagnosis / Q000235:genetics; D005483:Flushing / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D008407:Mast Cells / Q000187:drug effects; D034701:Mastocytosis, Cutaneous / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics; D011537:Pruritus / Q000175:diagnosis / Q000235:genetics; D017384:Sequence Deletion; D016896:Treatment Outcome; D053802:Tryptases / Q000097:blood; D014839:Vomiting / Q000175:diagnosis / Q000235:genetics
chemical_list: D003879:Dermatologic Agents; D019009:Proto-Oncogene Proteins c-kit; D053802:Tryptases