Epidermal nevus syndrome

Classification according to ICD-10
Q85.8	Other phacomatoses, not elsewhere classified
ICD-10 online (WHO version 2019)

The epidermal nevus syndrome (ENS) is a rare congenital combination of epidermal nevus and involvement of other organ systems as a result of developmental disorders of the eyes , the skeleton , the nervous system , the cardiovascular system or the urogenital tract .

Synonyms are: epidermal nevus syndrome; Solomon Syndrome; English Epidermal hamartoma syndrome;

A combination of epidermal nevus and neurological changes was first described in 1957 by Gustav W. Schimmelpenning and is now known as Schimmelpenning-Feuerstein-Mims syndrome .

LM Solomon and NB Esterly provided an overview from 1975 with the definition of the syndrome commonly used today.

classification

The epidermal nevus syndrome includes:

• Schimmelpenning-Feuerstein-Mims Syndrome
• Nevus comedonicus syndrome
• Becker nevus syndrome
• Proteus Syndrome
• CHILD syndrome
• Phakomatosis pigmentokeratotica
• SOLAMEN syndrome
• Angora hair nevus syndrome , synonym: shudder syndrome
• García-Hafner-Happle syndrome

Clinical manifestations

Clinical criteria are:

• Detectable epidermal nevi during or shortly after birth
• About half had neurological abnormalities such as mental retardation , epilepsy , and spastic paresis
• In around one third, changes to the eyes such as coloboma , choristoma , central blindness , micro- , macro- or anophthalmia , corneal opacity or cataracts

Skeletal malformations can also occur.

literature

• FS Laura: Epidermal nevus syndrome. In: Handbook of clinical neurology. Vol. 111, 2013, pp. 349-368, doi: 10.1016 / B978-0-444-52891-9.00041-5 , PMID 23622186 (review).
• R. Happle: The group of epidermal nevus syndromes Part I. Well defined phenotypes. In: Journal of the American Academy of Dermatology. Vol. 63, No. 1, July 2010, pp. 1-22, doi: 10.1016 / j.jaad.2010.01.017 , PMID 20542174 (review).
• R. Happle: The group of epidermal nevus syndromes Part II. Less well defined phenotypes. In: Journal of the American Academy of Dermatology. Vol. 63, No. 1, July 2010, pp. 25-30, doi: 10.1016 / j.jaad.2010.01.016 , PMID 20542175 .

Individual evidence

1. ↑ ^{a b c} Syndrome of the epidermal nevus. In: Orphanet (Rare Disease Database).
2. ↑ ^{a b} emedicine, medscape
3. ^ GW Schimmelpenning: Clinical contribution to the symptomatology of phakomatoses. In: Advances in X-Ray and Nuclear Medicine. Vol. 87, No. 6, December 1957, pp. 716-720, PMID 13512450 .
4. ↑ LM Solomon, NB Esterly: Epidermal and other congenital organoid nevi. In: Current problems in pediatrics. Vol. 6, No. 1, November 1975, pp. 1-56, PMID 173496 .

Web links

• Rare Diseases
• T. S Wright. Epidermal nevus and epidermal nevus syndrome. UpToDate

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !