Haim-Munk syndrome with erythroderma - A case report

Mahwish Zahoor Ahmad; Shehla Shaukat; Amina Afzal; Maryam Rafat; Hamza Shaikh; Ijaz Hussain

Haim-Munk syndrome with erythroderma - A case report

Mahwish Zahoor Ahmad^*, Shehla Shaukat, Amina Afzal, Maryam Rafat, Hamza Shaikh, Ijaz Hussain

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

Abstract

Haim-Munk syndrome (HMS) is a rare autosomal recessive disorder of keratinization clinically characterized by early onset severe periodontitis, palmoplantar keratoderma, onychogryphosis and arachnodactyly. Pes planus, acro-osteolysis and recurrent pyogenic infections are the frequent findings. Lysosomal protease cathepsin C gene mutation is the key etiological factor. Diagnosis is established on the basis of clinical features. We described a case of HMS presented in our OPD, with an unusual presentation i.e. erythroderma.

Original language	English
Pages (from-to)	363-366
Number of pages	4
Journal	Journal of Pakistan Association of Dermatologists
Volume	30
Issue number	2
State	Published - Apr 2020
Externally published	Yes

Bibliographical note

Publisher Copyright:
© 2020 Pakistan Association of Dermatologists. All rights reserved.

Keywords

Aggressive periodontitis
Haim-Munk syndrome
Palmo-plantar keratoderma
Papillon Lefèvre syndrome

ASJC Scopus subject areas

Dermatology

Cite this

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title = "Haim-Munk syndrome with erythroderma - A case report",

abstract = "Haim-Munk syndrome (HMS) is a rare autosomal recessive disorder of keratinization clinically characterized by early onset severe periodontitis, palmoplantar keratoderma, onychogryphosis and arachnodactyly. Pes planus, acro-osteolysis and recurrent pyogenic infections are the frequent findings. Lysosomal protease cathepsin C gene mutation is the key etiological factor. Diagnosis is established on the basis of clinical features. We described a case of HMS presented in our OPD, with an unusual presentation i.e. erythroderma.",

keywords = "Aggressive periodontitis, Haim-Munk syndrome, Palmo-plantar keratoderma, Papillon Lef{\`e}vre syndrome",

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year = "2020",

month = apr,

language = "English",

volume = "30",

pages = "363--366",

journal = "Journal of Pakistan Association of Dermatologists",

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TY - JOUR

T1 - Haim-Munk syndrome with erythroderma - A case report

AU - Ahmad, Mahwish Zahoor

AU - Shaukat, Shehla

AU - Afzal, Amina

AU - Rafat, Maryam

AU - Shaikh, Hamza

AU - Hussain, Ijaz

PY - 2020/4

Y1 - 2020/4

N2 - Haim-Munk syndrome (HMS) is a rare autosomal recessive disorder of keratinization clinically characterized by early onset severe periodontitis, palmoplantar keratoderma, onychogryphosis and arachnodactyly. Pes planus, acro-osteolysis and recurrent pyogenic infections are the frequent findings. Lysosomal protease cathepsin C gene mutation is the key etiological factor. Diagnosis is established on the basis of clinical features. We described a case of HMS presented in our OPD, with an unusual presentation i.e. erythroderma.

AB - Haim-Munk syndrome (HMS) is a rare autosomal recessive disorder of keratinization clinically characterized by early onset severe periodontitis, palmoplantar keratoderma, onychogryphosis and arachnodactyly. Pes planus, acro-osteolysis and recurrent pyogenic infections are the frequent findings. Lysosomal protease cathepsin C gene mutation is the key etiological factor. Diagnosis is established on the basis of clinical features. We described a case of HMS presented in our OPD, with an unusual presentation i.e. erythroderma.

KW - Aggressive periodontitis

KW - Haim-Munk syndrome

KW - Palmo-plantar keratoderma

KW - Papillon Lefèvre syndrome

UR - https://www.scopus.com/pages/publications/85100513979

M3 - Article

AN - SCOPUS:85100513979

SN - 1560-9014

VL - 30

SP - 363

EP - 366

JO - Journal of Pakistan Association of Dermatologists

JF - Journal of Pakistan Association of Dermatologists

IS - 2

ER -

Haim-Munk syndrome with erythroderma - A case report

Abstract

Bibliographical note

Keywords

ASJC Scopus subject areas

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