Reticulate Acropigmentation Of Kitamura

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Reticulate acropigmentation of Kitamura (RAK) is a rare pigmentary disorder that usually shows an autosomal dominant pattern of inheritance with high penetrance. Typical features include reticulate, slightly depressed, sharply demarcated brown macules without hypopigmentation, affecting the dorsa of the hands and feet in the first or second decade of life. The macules gradually darken and extend to the proximal regions of the extremities; progression of the eruptions stops in middle age. The increased pigmentation is found on the flexor aspects of the wrists, neck, patella, and olecranon. Other features include breaks in the epidermal ridges on the palms and fingers, palmoplantar pits, partial alopecia, and occasionally plantar keratoderma. Histopathologically, the brown macules show pigmentation in the tip of rete ridges with thinning of the epidermis, elongation and thinning of the rete ridges, and slight hyperkeratosis without parakeratosis. Only a few inflammatory cell infiltrates and no incontinentia pigmenti are seen in the dermis (summary by Kono et al., 2013). Review of Reticulate Pigment DisordersMuller et al. (2012) reviewed the spectrum of reticulate pigment disorders of the skin, tabulating all reported cases of patients with Dowling-Degos disease (see DDD1; {179850}), reticulate acropigmentation of Kitamura (RAK), reticulate acropigmentation of Dohi (DSH, RAD; {127400}), Galli-Galli disease (GGD), and Haber syndrome (HS). Of 82 cases, 26 (31.7%) were clinically diagnosed as DDD, 13 (15.9%) as RAD, 11 (13.4%) as GGD, 8 (9.8%) as RAK, and 8 (9.8%) as HS; in addition, 16 (19.5%) of the cases showed overlap between DDD and RAK. Muller et al. (2012) also published photographs of an affected individual exhibiting an overlap of clinical features of DDD, GGD, RAD, and RAK. The authors noted that in reticulate disorders of the skin, the main disease entity is DDD, with a subset of cases exhibiting acantholysis (GGD), facial erythema (HS), or an acral distribution (RAD; RAK). Muller et al. (2012) concluded that all reticulate pigment diseases of the skin are varying manifestations of a single entity.For a discussion of genetic heterogeneity of reticulate pigment disorders, see {179850}.

Genes related to Reticulate Acropigmentation Of Kitamura

ADAM10

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Clinical Features

Phenotypes and symptoms related to Reticulate Acropigmentation Of Kitamura

Alopecia
Hyperkeratosis
Erythema
Hypopigmentation of the skin
Parakeratosis
Acantholysis
Facial erythema

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Reticulate Acropigmentation Of Kitamura Is also known as reticulate pigmentation of kitamura, rpk, acropigmentatio reticularis, rak, kitamura reticulate acropigmentation.

Researches and researchers

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Reticulate Acropigmentation Of Kitamura Recommended genes panels

Panel Name, Specifity and genes Tested/covered
AllNeuro panel. By Centogene AG - the Rare Disease Company (Germany). BCS1L, ROR2, RPL10, BDNF, RPS6KA3, RTN2, RYR1, SACS, BIN1, SBF1, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1 , (...) View the complete list with 1177 more genes Panel complete gene list BCS1L, ROR2, RPL10, BDNF, RPS6KA3, RTN2, RYR1, SACS, BIN1, SBF1, SCN10A, SCN1A, SCN1B, SCN2A, SCN3A, SCN4A, SCN5A, SCN8A, SCN9A, SCO1, SCO2, SCP2, AIMP1, SDCCAG8, SDHA, SGCA, SGCB, SGCD, SGCE, SGCG, SGSH, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SIX6, SKI, DST, SLC12A6, SLC16A2, SLC17A5, SLC1A3, SLC20A2, SLC22A5, BRAF, SLC25A12, SLC25A3, SLC25A4, SLC2A1, SLC35A1, SLC35A2, SLC3A1, SLC4A4, SLC6A1, SLC6A3, SLC6A5, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, ARID1A, SMC1A, KDM5C, SMN1, SMN2, SMPD1, SMS, SNAP29, SNCA, SNCAIP, SNCB, SNX3, SOD1, SORL1, SOS1, SOX10, SOX3, SPG11, ATL1, SPAST, SPG7, SPR, SPTAN1, SPTBN2, SPTLC1, SPTLC2, CDKL5, STUB1, STXBP1, SUCLA2, SUCLG1, SURF1, SYN1, SYNGAP1, SYNJ1, SYP, TAF1, TAF2, TARDBP, TAZ, TBCE, TBX1, TWNK, TCAP, TCF4, TFAP2A, TFAP2B, TFG, TG, TGFB1, TGFB2, TGFBR1, TGFBR2, TGIF1, TH, ACO2, TIMM8A, NKX2-1, TK2, TLR3, TLR5, TSPAN7, TNF, ACOX1, TNFSF4, TNNT1, MED12, GIGYF2, TPM2, TPM3, TRAF3, 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PLP1, ACADSB, PMM2, PMP22, PRRX1, PHOX2B, PNKD, PNKP, POLG, POLG2, ACADVL, POMT1, B4GALT1, ACAT1, PPT1, PQBP1, PRKAG2, BAG3, PRKCG, PRKCH, PRKRA, PRNP, PROP1, PRPS1, HTRA1, PRSS12, PSAP, SLC33A1, PSEN1, PSEN2, TAS2R38, PTCH1, PTEN, PTPN11, BBS1, BBS2, PTS, BBS4, BBS5, NECTIN1, PEX19, PEX2, PEX5, ALDH18A1, PYGM, QARS, QDPR, RAB7A, RABGGTA, RAD21, RAD50, RAF1, RAI1, RANBP2, BCKDHA, RAPSN, BCKDHB, RBBP8, RBM10, RBM8A, PRPH2, RELN, RET Specificity 1 % Genes 100 %
Genetic disorders with abnormal pigmentation Panel. By CeGaT GmbH (Germany). BLM, SLC40A1, SNAI2, SOX10, STK11, TFR2, POFUT1, HAMP, ADAM10, LYST, SPRED1, ADAR, POGLUT1, EPG5, MLPH, EDN3, EDNRB, ENPP1, ABCB6, HFE , (...) View the complete list with 12 more genes Panel complete gene list BLM, SLC40A1, SNAI2, SOX10, STK11, TFR2, POFUT1, HAMP, ADAM10, LYST, SPRED1, ADAR, POGLUT1, EPG5, MLPH, EDN3, EDNRB, ENPP1, ABCB6, HFE, HJV, KIT, KITLG, KRT14, KRT5, MITF, MYO5A, NF1, NF2, PAX3, PTPN11, RAB27A Specificity 4 % Genes 100 %
ADAM10. By Fulgent Genetics Fulgent Genetics (United States). ADAM10 Specificity 100 % Genes 100 %
Dowling-Degos Disease , Panel Massive Sequencing (NGS) 6 Genes. By Reference Laboratory Genetics (Spain). POFUT1, ADAM10, ADAR, POGLUT1, KRT14, KRT5 Specificity 17 % Genes 100 %

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Sources and references

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