Repository logo
 

Malta (MYH9 Associated Elastin Aggregation) Syndrome: Germline Variants in MYH9 Cause Rare Sweat Duct Proliferations and Irregular Elastin Aggregations.

Accepted version
Peer-reviewed

No Thumbnail Available

Type

Article

Change log

Authors

Ziemer, Mirjana 
Hörtnagel, Konstanze 
Reicherter, Kerstin 

Abstract

To the Editor. Sweat duct proliferations and related cutaneous tumours pose a challenge for diagnosis and treatment due to the presence of multiple overlapping histopathological features (Schaller et al. 2010). In 1961 Nicolau and Balus described individuals with benign cutaneous lesions including atrophodermia vermiculata, multiple syringomata and milia which become known as Nicolau-Balus syndrome and was characterised by irregular distribution of elastin fibres (Nicolau and Balus 1961). A similar phenotype was later described as Rombo syndrome by Michaelsson et al (Michaelsson et al. 1981), with elastin distribution in these cases appearing like “swathes of steel wool” in some areas of the dermis (Van Steensel et al. 2001). In 2010, Schaller et al described several cases with the same abnormal elastin distribution, with the additional feature of sweat duct proliferations that appear morphologically similar to those found in microcystic adnexal carcinoma (MAC) patients, but (unlike MAC) were not invasive and did not require surgical resection (Schaller et al. 2010). In this study we describe five families with clinical and histopathological features that show similarities to Nicolau-Balus and Rombo syndromes with some cases also showing MAC-like ductal proliferations (figure S1). We provide evidence that these syndromes are caused by germline pathogenic variants in MYH9. Accordingly, we propose the term MALTA (MYH9 Associated eLasTin Aggregation) syndrome to reflect the common underlying genetic basis of this disease.

Description

Keywords

Adolescent, Blood Platelet Disorders, Child, Elastin, Female, Genetic Predisposition to Disease, Germ-Line Mutation, Hearing Loss, Sensorineural, Humans, Male, Myosin Heavy Chains, Pedigree, Platelet Aggregation, Rare Diseases, Sampling Studies, Sweat Glands, Syndrome, Thrombocytopenia, Young Adult

Journal Title

J Invest Dermatol

Conference Name

Journal ISSN

0022-202X
1523-1747

Volume Title

139

Publisher

Elsevier BV
Sponsorship
European Research Council (310018)