Telangiectasia macularis eruptiva perstans: a neglected type of mastocytosis with exclusively cutaneous involvement? A case series

Andrea Michelerio, Sara Grassi, Chiara Elena, Giorgio Alberto Croci, Emanuela Boveri, Grazia Bossi, Valeria Brazzelli

Research output: Contribution to journalArticle

Abstract

Background: Telangiectasia macularis eruptiva perstans (TMEP) is a rare form of cutaneous mastocytosis (CM). Although TMEP has been traditionally thought to be restricted to the skin, a recent retrospective multicentric study established a diagnosis with systemic involvement of mastocytosis in 47% patients affected by TMEP and aggressive systemic mastocytosis in 9%. Objectives: To evaluate systemic involvement in patients affected by TMEP. Materials and Methods: We conducted a retrospective monocentric study among patients affected by TMEP visited in our dermatology clinic. Data regarding gender, age at diagnosis, duration of the disease before diagnosis, topography, clinical features, presence of extra-cutaneous symptoms, serum tryptase levels, and histopathological and bone marrow biopsy features were analysed. Results: Among 119 patients classified with mastocytosis, eight patients (six males, two females) with TMEP and one female patient affected by mastocytosis in the skin, a TMEP variant, were retrospectively studied. The mean diagnostic delay was two years (range: 8–26 months). In two patients (25%), bone marrow involvement was identified and osteoporosis and hepatosplenomegaly were also found. The two patients with systemic involvement exhibited a statistically significant increase in serum tryptase levels (p <0.05). The detection of KIT gene mutation in skin specimens revealed a somatic mutation, KITD816 V, only in these two patients. Conclusion: TMEP is a rare form of CM, often neglected. A correct and early diagnosis of TMEP is important to rule out systemic involvement of the disease. Detection of serum tryptase levels may be a useful, rapid, and non-invasive marker of systemic involvement.

Original languageEnglish
Pages (from-to)174-178
Number of pages5
JournalEuropean Journal of Dermatology
Volume29
Issue number2
DOIs
Publication statusPublished - Mar 1 2019

Fingerprint

Mastocytosis
Telangiectasis
Skin
Cutaneous Mastocytosis
Tryptases
Systemic Mastocytosis
Retrospective Studies
Bone Marrow
Serum
Mutation
Dermatology
Osteoporosis
Early Diagnosis
Biopsy

Keywords

  • cutaneous mastocytosis
  • maculopapular cutaneous mastocytosis
  • systemic mastocytosis
  • telangiectasia macularis eruptiva perstans

ASJC Scopus subject areas

  • Dermatology

Cite this

@article{d6e11de79b34462782486df696989d50,
title = "Telangiectasia macularis eruptiva perstans: a neglected type of mastocytosis with exclusively cutaneous involvement? A case series",
abstract = "Background: Telangiectasia macularis eruptiva perstans (TMEP) is a rare form of cutaneous mastocytosis (CM). Although TMEP has been traditionally thought to be restricted to the skin, a recent retrospective multicentric study established a diagnosis with systemic involvement of mastocytosis in 47{\%} patients affected by TMEP and aggressive systemic mastocytosis in 9{\%}. Objectives: To evaluate systemic involvement in patients affected by TMEP. Materials and Methods: We conducted a retrospective monocentric study among patients affected by TMEP visited in our dermatology clinic. Data regarding gender, age at diagnosis, duration of the disease before diagnosis, topography, clinical features, presence of extra-cutaneous symptoms, serum tryptase levels, and histopathological and bone marrow biopsy features were analysed. Results: Among 119 patients classified with mastocytosis, eight patients (six males, two females) with TMEP and one female patient affected by mastocytosis in the skin, a TMEP variant, were retrospectively studied. The mean diagnostic delay was two years (range: 8–26 months). In two patients (25{\%}), bone marrow involvement was identified and osteoporosis and hepatosplenomegaly were also found. The two patients with systemic involvement exhibited a statistically significant increase in serum tryptase levels (p <0.05). The detection of KIT gene mutation in skin specimens revealed a somatic mutation, KITD816 V, only in these two patients. Conclusion: TMEP is a rare form of CM, often neglected. A correct and early diagnosis of TMEP is important to rule out systemic involvement of the disease. Detection of serum tryptase levels may be a useful, rapid, and non-invasive marker of systemic involvement.",
keywords = "cutaneous mastocytosis, maculopapular cutaneous mastocytosis, systemic mastocytosis, telangiectasia macularis eruptiva perstans",
author = "Andrea Michelerio and Sara Grassi and Chiara Elena and Croci, {Giorgio Alberto} and Emanuela Boveri and Grazia Bossi and Valeria Brazzelli",
year = "2019",
month = "3",
day = "1",
doi = "10.1684/ejd.2019.3532",
language = "English",
volume = "29",
pages = "174--178",
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TY - JOUR

T1 - Telangiectasia macularis eruptiva perstans

T2 - a neglected type of mastocytosis with exclusively cutaneous involvement? A case series

AU - Michelerio, Andrea

AU - Grassi, Sara

AU - Elena, Chiara

AU - Croci, Giorgio Alberto

AU - Boveri, Emanuela

AU - Bossi, Grazia

AU - Brazzelli, Valeria

PY - 2019/3/1

Y1 - 2019/3/1

N2 - Background: Telangiectasia macularis eruptiva perstans (TMEP) is a rare form of cutaneous mastocytosis (CM). Although TMEP has been traditionally thought to be restricted to the skin, a recent retrospective multicentric study established a diagnosis with systemic involvement of mastocytosis in 47% patients affected by TMEP and aggressive systemic mastocytosis in 9%. Objectives: To evaluate systemic involvement in patients affected by TMEP. Materials and Methods: We conducted a retrospective monocentric study among patients affected by TMEP visited in our dermatology clinic. Data regarding gender, age at diagnosis, duration of the disease before diagnosis, topography, clinical features, presence of extra-cutaneous symptoms, serum tryptase levels, and histopathological and bone marrow biopsy features were analysed. Results: Among 119 patients classified with mastocytosis, eight patients (six males, two females) with TMEP and one female patient affected by mastocytosis in the skin, a TMEP variant, were retrospectively studied. The mean diagnostic delay was two years (range: 8–26 months). In two patients (25%), bone marrow involvement was identified and osteoporosis and hepatosplenomegaly were also found. The two patients with systemic involvement exhibited a statistically significant increase in serum tryptase levels (p <0.05). The detection of KIT gene mutation in skin specimens revealed a somatic mutation, KITD816 V, only in these two patients. Conclusion: TMEP is a rare form of CM, often neglected. A correct and early diagnosis of TMEP is important to rule out systemic involvement of the disease. Detection of serum tryptase levels may be a useful, rapid, and non-invasive marker of systemic involvement.

AB - Background: Telangiectasia macularis eruptiva perstans (TMEP) is a rare form of cutaneous mastocytosis (CM). Although TMEP has been traditionally thought to be restricted to the skin, a recent retrospective multicentric study established a diagnosis with systemic involvement of mastocytosis in 47% patients affected by TMEP and aggressive systemic mastocytosis in 9%. Objectives: To evaluate systemic involvement in patients affected by TMEP. Materials and Methods: We conducted a retrospective monocentric study among patients affected by TMEP visited in our dermatology clinic. Data regarding gender, age at diagnosis, duration of the disease before diagnosis, topography, clinical features, presence of extra-cutaneous symptoms, serum tryptase levels, and histopathological and bone marrow biopsy features were analysed. Results: Among 119 patients classified with mastocytosis, eight patients (six males, two females) with TMEP and one female patient affected by mastocytosis in the skin, a TMEP variant, were retrospectively studied. The mean diagnostic delay was two years (range: 8–26 months). In two patients (25%), bone marrow involvement was identified and osteoporosis and hepatosplenomegaly were also found. The two patients with systemic involvement exhibited a statistically significant increase in serum tryptase levels (p <0.05). The detection of KIT gene mutation in skin specimens revealed a somatic mutation, KITD816 V, only in these two patients. Conclusion: TMEP is a rare form of CM, often neglected. A correct and early diagnosis of TMEP is important to rule out systemic involvement of the disease. Detection of serum tryptase levels may be a useful, rapid, and non-invasive marker of systemic involvement.

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KW - maculopapular cutaneous mastocytosis

KW - systemic mastocytosis

KW - telangiectasia macularis eruptiva perstans

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