Phakomatosis pigmentokeratotica

Medical condition

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. It is an unusual variant of epidermal naevus syndrome. It was first described by Happle et al. 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.

Signs and symptoms

Phakomatosis pigmentokeratotica consists of a speckled lentiginous naevus arranged in a checkerboard pattern and an organoid (epidermal) naevus associated with sebaceous differentiation. 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.

Causes

Phakomatosis pigmentokeratotica is brought on by a multipotent progenitor cell's postzygotic HRAS mutation.

References

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.
^ 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. ISSN 0736-8046. PMID 9720704.
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. PMC 4891480. PMID 27398198.

External links

VisualDx

Classification	D ICD-11: LD2D.Y ICD-10: Q85.8 MeSH: C537893 SNOMED CT: 723455009
External resources	GARD: Phakomatosis pigmentokeratotica Orphanet: 2874 Scholia: Q7180212

Skin cancer of the epidermis

Tumor

Carcinoma

BCC	Forms Aberrant Cicatricial Cystic Fibroepithelioma of Pinkus Infiltrative Micronodular Nodular Pigmented Polypoid Pore-like Rodent ulcer Superficial Nevoid basal-cell carcinoma syndrome
SCC	Forms Adenoid Basaloid Clear-cell Signet-ring-cell Spindle-cell Marjolin's ulcer Bowen's disease Bowenoid papulosis Erythroplasia of Queyrat Actinic keratosis
Adenocarcinoma	Aggressive digital papillary adenocarcinoma Extramammary Paget's disease
Ungrouped	Merkel-cell carcinoma Microcystic adnexal carcinoma Mucinous carcinoma Primary cutaneous adenoid cystic carcinoma Verrucous carcinoma Malignant mixed tumor

Benign
tumors

Acanthoma	Forms Large-cell Fissuring Clear-cell Epidermolytic Melanoacanthoma Pilar sheath acanthoma Seboacanthoma Seborrheic keratosis Warty dyskeratoma
Keratoacanthoma	Generalized eruptive Keratoacanthoma centrifugum marginatum Multiple Solitary
Wart	Verruca vulgaris Verruca plana Plantar wart Periungual wart

Other

Epidermal nevus	Syndromes Epidermal nevus syndrome Schimmelpenning syndrome Nevus comedonicus syndrome Nevus comedonicus Inflammatory linear verrucous epidermal nevus Linear verrucous epidermal nevus Pigmented hairy epidermal nevus syndrome Systematized epidermal nevus Phakomatosis pigmentokeratotica
Other nevus	Nevus unius lateris Patch blue nevus Unilateral palmoplantar verrucous nevus Zosteriform speckled lentiginous nevus
Ungrouped	Cutaneous horn

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