Porokeratotic eccrine ostium nevus
| Classification according to ICD-10 | |
|---|---|
| D22.9 | Melanocyte nevus, unspecified |
| Q82.5 | Congenital non-neoplastic nevus |
| ICD-10 online (WHO version 2019) | |
The Porokeratotische eccrine Ostiumnaevus is a very rare congenital hamartoma of the skin ( Komedonennaevus ) with major infestation of palm .
Synonym : PEODDN, acronym for English Porokeratotic eccrine ostial and dermal duct nevus
The first description comes from 1979 and was done by RA Marsden and colleagues.
distribution
The frequency is given as less than 1 in 1,000,000.
root cause
Of the disease are - at least partly - mutations in GJB2 - gene on chromosome 13 locus q12.11 based, which for the Gap-junctin protein connexin encoded 26th
Dominant mutations of this gene are responsible for a number of syndromes:
- Bart-Pumphrey Syndrome
- Hystrix-like ichthyosis deafness syndrome (HID)
- Keratitis-Ichthyosis-Numbness Syndrome responsible.
- Keratoderma hereditarium mutilans (Vohwinkel)
- PPK deafness syndrome
Clinical manifestations
Clinical criteria are:
- Onset of illness as a newborn or toddler
- Mainly lower extremities , palms and soles of the feet, rarely affected trunk
- yellowish (brown) papules along the Blaschko lines without disturbing symptoms , often comedone-like keratoses
- Histologically eccrine cell differentiation
literature
- D. Bandyopadhyay, A. Saha, D. Das, A. Das: Porokeratotic eccrine ostial and dermal duct nevus. In: Indian dermatology online journal. Vol. 6, No. 2, 2015 Mar-Apr, pp. 117–119, doi: 10.4103 / 2229-5178.153016 , PMID 25821735 , PMC 4375756 (free full text).
- D. Bhunia, S. Ghosh, O. Rudra, SK Biswas: Porokeratotic eccrine ostial and dermal duct nevus - revisited. In: Dermatology online journal. Vol. 20, No. 9, September 2014, p., PMID 25244169 .
- B. Coras, T. Vogt, U. Hohenleutner, M. Landthaler, S. Karrer: Porokeratotic ductal nevus eccrinicus (PEODDN). In: Journal of the German Dermatological Society = Journal of the German Society of Dermatology: JDDG. Vol. 1, No. 10, October 2003, pp. 797-800, PMID 16281816 .
Individual evidence
- ↑ a b c Ostium nevus, eccrine porokeratotic. In: Orphanet (Rare Disease Database).
- ↑ a b Encyclopedia Dermatology
- ^ RA Marsden, K. Fleming, RP Dawber: Comedo naevus of the palm - a sweat duct naevus? In: The British journal of dermatology. Vol. 101, No. 6, December 1979, pp. 717-722, PMID 93967 .
- ↑ JL Levinsohn, JM McNiff, RJ Antaya, KA Choate: A Somatic p.G45E GJB2 Mutation Causing Porokeratotic Eccrine Ostial and Dermal Duct Nevus. In: JAMA dermatology. Vol. 151, No. 6, June 2015, pp. 638-641, doi: 10.1001 / jamadermatol.2014.5069 , PMID 25692760 .
- ↑ GJB2. In: Online Mendelian Inheritance in Man . (English)
- ^ Hystrix-like ichthyosis with deafness. In: Online Mendelian Inheritance in Man . (English)
- ↑ Palmoplantar Keratosis - hearing loss. In: Orphanet (Rare Disease Database).
