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Reticulate acropigmentation of Kitamura(RAK)

MedGen UID:
98363
Concept ID:
C0406811
Disease or Syndrome
Synonyms: Kitamura reticulate acropigmentation; RAK; Reticular pigment anomaly of flexures
SNOMED CT: Kitamura's reticulate acropigmentation (239133004); Reticulate acropigmentation of Kitamura (239133004)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
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.
 
Gene (location): ADAM10 (15q21.3)
 
Monarch Initiative: MONDO:0014234
OMIM®: 615537
Orphanet: ORPHA178307

Definition

A rare, genetic, hyperpigmentation of the skin disease characterized by childhood to adulthood-onset of reticulate, slightly depressed, sharply demarcated, brown, macular skin lesions without hypopigmentation, affecting the dorsa of the hands and feet, and, occasionally, progressing to involve limbs, neck, forehead and/or trunk. Interrupted dermatoglyphics and palmoplantar pits may be additionally observed. Histologically, hyperpigmented lesions show slightly elongated and thinned rete ridges, mild hyperkeratosis without parakeratosis and absence of incontinentia pigmenti. [from ORDO]

Clinical features

From HPO
Macule
MedGen UID:
451035
Concept ID:
C0332573
Sign or Symptom
A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin.
Hyperkeratosis
MedGen UID:
209030
Concept ID:
C0870082
Disease or Syndrome
Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReticulate acropigmentation of Kitamura
Follow this link to review classifications for Reticulate acropigmentation of Kitamura in Orphanet.

Professional guidelines

PubMed

Aldana PC, Khachemoune A
Int J Dermatol 2020 May;59(5):543-550. Epub 2019 Nov 14 doi: 10.1111/ijd.14700. PMID: 31724740
Arin MJ, Grimberg G, Schumann H, De Almeida H Jr, Chang YR, Tadini G, Kohlhase J, Krieg T, Bruckner-Tuderman L, Has C
Br J Dermatol 2010 Jun;162(6):1365-9. Epub 2010 Feb 25 doi: 10.1111/j.1365-2133.2010.09657.x. PMID: 20199538

Recent clinical studies

Etiology

Lin MH, Chou PC, Lee IC, Yang SF, Yu HS, Yu S
Genes (Basel) 2023 Jun 20;14(6) doi: 10.3390/genes14061300. PMID: 37372478Free PMC Article
Zhang J, Li M, Yao Z
Br J Dermatol 2017 Oct;177(4):945-959. Epub 2017 Sep 27 doi: 10.1111/bjd.15575. PMID: 28407215
Kocatürk E, Kavala M, Zindanci I, Zemheri E, Koç MK, Sarigül S
Dermatol Online J 2008 Aug 15;14(8):7. PMID: 19061567
Lestringant GG, Masouyé I, Frossard PM, Adeghate E, Galadari IH
Dermatology 1997;195(4):337-43. doi: 10.1159/000245984. PMID: 9529553
Erel A, Ozarmagan G
J Dermatol 1992 Apr;19(4):256-7. doi: 10.1111/j.1346-8138.1992.tb03220.x. PMID: 1607491

Diagnosis

Zhang J, Li M, Yao Z
Br J Dermatol 2017 Oct;177(4):945-959. Epub 2017 Sep 27 doi: 10.1111/bjd.15575. PMID: 28407215
Georgescu EF, Stănescu L, Popescu CF, Comănescu M, Georgescu I
Rom J Morphol Embryol 2010;51(1):181-5. PMID: 20191141
Kocatürk E, Kavala M, Zindanci I, Zemheri E, Koç MK, Sarigül S
Dermatol Online J 2008 Aug 15;14(8):7. PMID: 19061567
Thami GP, Jaswal R, Kanwar AJ, Radotra BD, Singh IP
Dermatology 1998;196(3):350-1. doi: 10.1159/000017913. PMID: 9621148
Schnur RE, Heymann WR
Semin Cutan Med Surg 1997 Mar;16(1):72-80. doi: 10.1016/s1085-5629(97)80038-7. PMID: 9125768

Therapy

Kocatürk E, Kavala M, Zindanci I, Zemheri E, Koç MK, Sarigül S
Dermatol Online J 2008 Aug 15;14(8):7. PMID: 19061567
Schnur RE, Heymann WR
Semin Cutan Med Surg 1997 Mar;16(1):72-80. doi: 10.1016/s1085-5629(97)80038-7. PMID: 9125768
Kameyama K, Morita M, Sugaya K, Nishiyama S, Hearing VJ
J Am Acad Dermatol 1992 May;26(5 Pt 2):817-20. doi: 10.1016/0190-9622(92)70112-s. PMID: 1613143

Prognosis

Zhang J, Li M, Yao Z
Br J Dermatol 2017 Oct;177(4):945-959. Epub 2017 Sep 27 doi: 10.1111/bjd.15575. PMID: 28407215

Clinical prediction guides

Belamarić M, Ljubojević Hadžavdić S
Acta Dermatovenerol Croat 2022 Dec;30(4):261-262. PMID: 36919394
Lestringant GG, Masouyé I, Frossard PM, Adeghate E, Galadari IH
Dermatology 1997;195(4):337-43. doi: 10.1159/000245984. PMID: 9529553
Danese P, Zanca A, Bertazzoni MG
J Am Acad Dermatol 1997 Nov;37(5 Pt 2):884-6. doi: 10.1016/s0190-9622(97)80018-7. PMID: 9366859
Dhar S, Kanwar AJ, Jebraili R, Dawn G, Das A
J Dermatol 1994 Aug;21(8):598-603. doi: 10.1111/j.1346-8138.1994.tb01801.x. PMID: 7962960
Kameyama K, Morita M, Sugaya K, Nishiyama S, Hearing VJ
J Am Acad Dermatol 1992 May;26(5 Pt 2):817-20. doi: 10.1016/0190-9622(92)70112-s. PMID: 1613143

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