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Porokeratosis of Mantoux(POROK2)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Keratoderma palmoplantar, punctate type 2; POROK2; POROKERATOSIS 2, PALMAR, PLANTAR, AND DISSEMINATED TYPE; Porokeratosis plantaris palmaris et disseminata; POROKERATOSIS, PALMAR, PLANTAR, AND DISSEMINATED; POROKERATOSIS, PALMAR, PLANTAR, AND DISSEMINATED, 1; Porokeratosis, Palmoplantar; Type 2 punctate PPK
SNOMED CT: Porokeratosis plantaris palmaris et disseminata (718218005)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
X-linked dominant inheritance
MedGen UID:
Concept ID:
Source: Orphanet
A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.
Monarch Initiative: MONDO:0008291
OMIM®: 175850
Orphanet: ORPHA737


Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course (Schamroth et al., 1997). However, as noted by Sybert (2010), families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial. Porokeratosis palmaris plantaris et disseminata (PPPD) is a subtype in which lesions initially develop on the palms and soles, but later involve other parts of the body, including the trunk and limbs (Wei et al., 2003). For a discussion of genetic heterogeneity of porokeratosis, see 174800. [from OMIM]

Clinical features

From HPO
MedGen UID:
Concept ID:
Congenital Abnormality
A clonal disorder of keratinization with one or multiple atrophic patches surrounded by a clinically and histologically distinctive hyperkeratotic ridgelike border called the cornoid lamella.
Plantar telangiectasia
MedGen UID:
Concept ID:
Anatomical Abnormality
Telangiectases (small dilated blood vessels) located on the skin of sole of foot.
Palmar telangiectasia
MedGen UID:
Concept ID:
Anatomical Abnormality
The presence of telangiectases on the skin of palm of hand.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPorokeratosis of Mantoux
Follow this link to review classifications for Porokeratosis of Mantoux in Orphanet.

Professional guidelines


Vargas-Mora P, Morgado-Carrasco D, Fustà-Novell X
Actas Dermosifiliogr (Engl Ed) 2020 Sep;111(7):545-560. Epub 2020 May 13 doi: 10.1016/j.ad.2020.03.005. PMID: 32401728
Atzmony L, Lim YH, Hamilton C, Leventhal JS, Wagner A, Paller AS, Choate KA
J Am Acad Dermatol 2020 Jan;82(1):123-131. Epub 2019 Aug 23 doi: 10.1016/j.jaad.2019.08.043. PMID: 31449901Free PMC Article
Weidner T, Illing T, Miguel D, Elsner P
Am J Clin Dermatol 2017 Aug;18(4):435-449. doi: 10.1007/s40257-017-0271-3. PMID: 28283894

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