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Porokeratosis 3, disseminated superficial actinic type(DSAP1)

MedGen UID:
401352
Concept ID:
C1867981
Disease or Syndrome
Synonyms: DSAP1; POROKERATOSIS 3, MIBELLI TYPE; POROKERATOSIS 3, MULTIPLE TYPES; Porokeratosis, disseminated superficial actinic 1
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM
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.
 
Gene (location): MVK (12q24.11)
 
Monarch Initiative: MONDO:0008293
OMIM®: 175900

Definition

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), several 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. Mutations in the MVK gene have been found to cause multiple types of porokeratosis, which have been described as disseminated superficial actinic porokeratosis (DSAP), nonactinic disseminated superficial porokeratosis (DSP), porokeratosis of Mibelli, giant plaque of porokeratosis ptychotropica, hyperkeratotic porokeratosis, and linear porokeratosis. The preferred title of this entry was formerly 'Porokeratosis 3, Disseminated Superficial Actinic Type; POROK3.' Disseminated superficial actinic porokeratosis is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life (summary by Wu et al., 2004 and Zhang et al., 2012). For a discussion of genetic heterogeneity of porokeratosis, see 175800. [from OMIM]

Clinical features

From HPO
Parakeratosis
MedGen UID:
10572
Concept ID:
C0030436
Disease or Syndrome
Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes.
Nail dystrophy
MedGen UID:
66368
Concept ID:
C0221260
Disease or Syndrome
Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.
Porokeratosis of Mibelli
MedGen UID:
181842
Concept ID:
C0949506
Disease or Syndrome
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), several families with expression of more than one variant of porokeratosis among members, and several individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial. Mutations in the MVK gene have been found to cause multiple types of porokeratosis, which have been described as porokeratosis of Mibelli, porokeratoma, genital porokeratosis, hyperkeratotic porokeratosis, and linear porokeratosis. The preferred title of this entry was formerly 'Porokeratosis 1, Mibelli Type; POROK1.' Genetic Heterogeneity of Porokeratosis Also see porokeratosis-2 (POROK2; 175850), mapped to chromosome 12q24; POROK3 (175900), caused by mutation in the MVK gene (251170) on chromosome 12q24; POROK4 (607728), mapped to chromosome 15q25-q26; POROK5 (612293), mapped to chromosome 1p31; POROK6 (612353), mapped to chromosome 1p31; POROK7 (614714), caused by mutation in the MVD gene (603236) on chromosome 16q24; POROK8 (616063), caused by mutation in the SLC17A9 gene (612107) on chromosome 20q13; and POROK9 (616631), caused by mutation in the FDPS gene (134629) on chromosome 1q22. A palmoplantar form of punctate porokeratosis has also been described (PPKP2; 175860). Genotype/Phenotype Correlations Zhang et al. (2015) screened 12 isoprenoid genes in 134 Chinese probands with porokeratosis and identified mutations in the MVK, MVD, PMVK, and FDPS genes in 113 patients. The authors noted that giant plaque-type porokeratosis ptychotropica with lesion diameters of at least 5 cm appeared to be uniquely associated with mutation in MVK; it was observed in 19 (50%) of 38 MVK probands, but not in patients with mutations in any of the other 3 genes or in the 21 probands in whom no mutation was found. MVK patients also showed the widest range in terms of the number and size of lesions, as well as presence of porokeratosis subtypes. In patients with MVD mutations, the age of onset ranged from 5 to 70 years, and lesion diameters were generally less than 2 cm. In addition, 6 of the 62 MVD probands exhibited solar facial porokeratosis, which was not seen in any other patients. Localized genital porokeratosis and porokeratoma appeared to be uniquely associated with mutation in the PMVK gene, whereas patients with mutations in the FDPS gene had more than 500 lesions, all with diameters of 1 cm or less.

Recent clinical studies

Diagnosis

Niimi Y, Kawana S
Eur J Dermatol 2009 Jan-Feb;19(1):25-8. Epub 2008 Dec 5 doi: 10.1684/ejd.2008.0567. PMID: 19059828
Boente Mdel C, López-Baró AM, Frontini Mdel V, Asial RA
Pediatr Dermatol 2003 Nov-Dec;20(6):514-8. doi: 10.1111/j.1525-1470.2003.20613.x. PMID: 14651573

Therapy

Niimi Y, Kawana S
Eur J Dermatol 2009 Jan-Feb;19(1):25-8. Epub 2008 Dec 5 doi: 10.1684/ejd.2008.0567. PMID: 19059828

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