An Uncommon Clinical Presentation of a Rare Disease-Alkaptonuria: Case Report

Authors

  • Umar Abdul Ali Qureshi Pak Emirates Military Hospital/National University of Medical Sciences (NUMS) Rawalpindi Pakistan
  • Naveed Akhtar Malik Pak Emirates Military Hospital/National University of Medical Sciences (NUMS) Rawalpindi Pakistan

DOI:

https://doi.org/10.51253/pafmj.v73i6.9174

Keywords:

Alkaptonuria, Endogenous ochronosis, Palmoplantar pigmentation

Abstract

Palmoplantar pigmentation is a rare clinical presentation of alkaptonuria, a rare inborn error of phenylalanine and tyrosine
metabolism. Alkaptonuria occurs owing to a deficiency of an enzyme homogentisic acid oxidase inherited as an autosomal
recessive disorder. We report a case of alkaptonuria, which presented with palmoplantar pigment pigmentary nail changes
and the involvement of the spine and joints. He was advised of ascorbic acid along with symptomatic management and
detailed counselling.

Downloads

Download data is not yet available.

References

Sethuraman G, D'Souza M, Vijaikumar M, Karthikeyan K, Rao K,Thappa D, et al. An unusual palmoplantar pigmentation.

Postgrad Med J 2001; 77(906): 268-270.http://doi.org/10.1136/pmj.77.906.268

Sil A, Bhanja DB, Panigrahi A, Mondal S, Datta M. Palmoplantarkeratosis and raindrop pigmentation in chronic arsenicosis. QJM2020; 113(8): 584-585. https://doi.org/10.1093/qjmed/hcz309

Kumar HN, Hiremath CN, Sree NB, Rao AVM. Palmarpigmentation: An unusual presentation of alkaptonuria. Pigment

Int 2016; 3(1): 49-52.

Phornphutkul C, Introne WJ, Perry MB, Bernardini I, MurpheyMD, Fitzpatrick DL, et al. Natural history of alkaptonuria. N EngJ Med 2002; 347(26): 2111-2121.https://doi.org/10.1056/nejmoa021736

Hakim R, Rozen N, Zatkova A, Krausz J, Elmalah I, Spiegel R.Degenerative Osteoarthritis with Multiple Joint Arthroplasties

Due to Alkaptonuria, a Rare Inborn Error of TyrosineMetabolism. Isr Med Assoc J 2018; 20(4): 260-261.

Vilboux T, Kayser M, Introne W, Suwannarat P, Bernardini I,Fischer R, et al. Mutation spectrum of homogentisic acid oxidase(HGD) in alkaptonuria. Hum Mutat 2009; 30(12): 1611-1619.https://doi.org/10.1002/humu.21120

Nafees M, Muazzam M. Alkaptonuria-case report and review ofliterature. Pak J Med Sc 2007; 23(4): 650.

Pollak MR, Wu Chou Y-H, Cerda JJ, Steinmann B, La Du BN,Seidman J, et al. Homozygosity mapping of the gene for

alkaptonuria to chromosome 3q2. Nat Gen 1993; 5(2): 201-204.https://doi.org/10.1038/ng1093-201

Thomas M, Jebaraj JI, Thomas M, George R. Acral pigmentationin alkaptonuria resembling degenerative collagenous plaques ofthe hands: a report of five cases. J Ame Acad Dermatol 2011;65(2): e45-e6. https://doi.org/10.1016/j.jaad.2009.12.041

Vijaikumar M, Thappa D, Srikanth S, Sethuraman G, Nadarajan

S. Alkaptonuric ochronosis presenting as palmoplantar pigmentation. Clin Exp Dermatol 2000; 25(4): 305-307.

https://doi.org/10.1046/j.1365-2230.2000.00649.x

Downloads

Published

30-12-2023

Issue

Section

Case Reports

How to Cite

1.
Qureshi UAA, Malik NA. An Uncommon Clinical Presentation of a Rare Disease-Alkaptonuria: Case Report. Pak Armed Forces Med J [Internet]. 2023 Dec. 30 [cited 2024 Jul. 19];73(6):1870-2. Available from: https://pafmj.org/PAFMJ/article/view/9174