Phakomatosis pigmentokeratotica
| Phakomatosis pigmentokeratotica | |
|---|---|
| Other names | Organoid nevus with sebaceous differentiation, a speckled-lentiginous nevus, and other associated anomalies |
| Specialty | Dermatology |
Phakomatosis pigmentokeratotica is a rare neurocutanous condition characterized by the combination of an organoid sebaceous nevus and speckled lentiginous nevus.[1]: 634–5 [2]: 776 It is an unusual variant of epidermal naevus syndrome.[3] It was first described by Happle et al.[4] It is often associated with neurological or skeletal anomalies such as hemiatrophy, dysaesthesia and hyperhidrosis in a segmental pattern, mild mental retardation, seizures, deafness, ptosis and strabismus.[5]
Signs and symptoms[edit]
Phakomatosis pigmentokeratotica consists of a speckled lentiginous naevus arranged in a checkerboard pattern and an organoid (epidermal) naevus associated with sebaceous differentiation.[6][7] Other abnormalities are prevalent; these are usually neurological or skeletal and include hemiatrophy, segmental dysaesthesia and hyperhidrosis, minor mental retardation, seizures, deafness, ptosis, and strabismus.[5]
Causes[edit]
Phakomatosis pigmentokeratotica is brought on by a multipotent progenitor cell's postzygotic HRAS mutation.[8]
See also[edit]
References[edit]
- ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
- ^ Hill, Virginia A; Felix, R H; Mortimer, P S; Harper, J I (2002). "Phacomatosis pigmentokeratotica". Journal of the Royal Society of Medicine. 96 (1): 30–31. doi:10.1177/014107680309600109. ISSN 0141-0768. PMC 539370. PMID 12519801.
- ^ Happle, R; Hoffmann, R; Restano, L; Caputo, R; Tadini, G (11 November 1996). "Phacomatosis pigmentokeratotica: a melanocytic-epidermal twin nevus syndrome". American Journal of Medical Genetics. 65 (4): 363–5. doi:10.1002/(SICI)1096-8628(19961111)65:4<363::AID-AJMG27>3.0.CO;2-R. PMID 8923953.
- ^ a b Tadini, G; Restano, L; Gonzáles-Pérez, R; Gonzáles-Enseñat, A; Vincente-Villa, MA; Cambiaghi, S; Marchettini, P; Mastrangelo, M; Happle, R (March 1998). "Phacomatosis pigmentokeratotica: report of new cases and further delineation of the syndrome". Archives of Dermatology. 134 (3): 333–7. doi:10.1001/archderm.134.3.333. PMID 9580120.
- ^ Langenbach, N.; Hohenleutner, U.; Landthaler, M. (1998). "Phacomatosis pigmentokeratotica: Speckled-Lentiginous Nevus in Association with Nevus sebaceus". Dermatology. 197 (4). S. Karger AG: 377–380. doi:10.1159/000018035. ISSN 1018-8665. PMID 9873178.
- ^ Torrelo, A; Zambrano, A (1998). "What syndrome is this. Phakomatosis pigmentokeratotica (Happle)". Pediatric Dermatology. 15 (4). Wiley: 321–323. doi:10.1046/j.1525-1470.1998.1998015321.x (inactive 2024-06-04). ISSN 0736-8046.
{{cite journal}}: CS1 maint: DOI inactive as of June 2024 (link) - ^ Gamayunov, Boris N.; Korotkiy, Nikolay G.; Baranova, Elena E. (2016-05-04). "Phacomatosis pigmentokeratotica or the Schimmelpenning-Feuerstein-Mims syndrome?". Clinical Case Reports. 4 (6). Wiley: 564–567. doi:10.1002/ccr3.570. ISSN 2050-0904.
Further reading[edit]
- Groesser, Leopold; Herschberger, Eva; Sagrera, Ana; Shwayder, Tor; Flux, Katharina; Ehmann, Laura; Wollenberg, Andreas; Torrelo, Antonio; Bagazgoitia, Lorea; Diaz-Ley, Blanca; Tinschert, Sigrid; Oschlies, Ilske; Singer, Sebastian; Mickler, Marion; Toll, Agusti; Landthaler, Michael; Real, Francisco X.; Hafner, Christian (2013). "Phacomatosis Pigmentokeratotica Is Caused by a Postzygotic HRAS Mutation in a Multipotent Progenitor Cell". Journal of Investigative Dermatology. 133 (8). Elsevier BV: 1998–2003. doi:10.1038/jid.2013.24. ISSN 0022-202X. PMID 23337891.
- Prieto-Barrios, M.; Llamas-Martin, R.; Velasco-Tamariz, V.; Calleja-Algarra, A.; Ruano, Y.; Ortiz-Romero, P.L.; Rodriguez-Peralto, J.L. (2018). "Phacomatosis pigmentokeratotica: a case of HRAS mosaicism causing rhabdomyosarcoma". British Journal of Dermatology. 179 (5): 1163–1167. doi:10.1111/bjd.16435. PMID 29430633.