Indian Journal of Dermatology
  Publication of IADVL, WB
  Official organ of AADV
Indexed with Science Citation Index (E) , Web of Science and PubMed
 
Users online: 4447  
Home About  Editorial Board  Current Issue Archives Online Early Coming Soon Guidelines Subscriptions  e-Alerts    Login  
    Small font sizeDefault font sizeIncrease font size Print this page Email this page


 
Table of Contents 
CORRESPONDENCE
Year : 2016  |  Volume : 61  |  Issue : 6  |  Page : 678-680
A case of alkaptonuria with degenerative collagenous plaques and foot drop


Department of Dermatology, Government Villupuram Medical College Hospital, Villupuram, Tamil Nadu, India

Date of Web Publication9-Nov-2016

Correspondence Address:
C Chandrakala
Department of Dermatology, Government Villupuram Medical College Hospital, Villupuram, Tamil Nadu
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0019-5154.193689

Rights and Permissions



How to cite this article:
Chandrakala C, Tharini GK, Ananthi M, Subha R. A case of alkaptonuria with degenerative collagenous plaques and foot drop. Indian J Dermatol 2016;61:678-80

How to cite this URL:
Chandrakala C, Tharini GK, Ananthi M, Subha R. A case of alkaptonuria with degenerative collagenous plaques and foot drop. Indian J Dermatol [serial online] 2016 [cited 2020 Apr 1];61:678-80. Available from: http://www.e-ijd.org/text.asp?2016/61/6/678/193689


Sir,

Alkaptonuria is an autosomal recessive disorder caused by deficiency of the enzyme homogentisic acid oxidase. [1] We report a case of alkaptonuria with degenerative collagenous plaques in hands and feet and foot drop which are the rare manifestations of this metabolic disorder.

A 45-year-old female presented with bluish green hyperkeratotic plaques in both palms and soles, greenish pigmentation of ears, and back pain for 6 years. There was no history of consanguinity.

On examination, thick hyperkeratotic, bluish green crateriform plaques were present at the margins of both palms, finger tips, and transgradient margins of both soles [Figure 1]a and b. Both ear cartilages were hardened and were having bluish green discoloration [Figure 1]c. Eye examination revealed grayish black pigmented macule between outer canthus and limbus of the left eye [Figure 1]d.
Figure 1: (a) Hyperkeratotic pigmented crateriform plaques in palms. (b) Hyperkeratotic pigmented plaques in heels. (c) Bluish green pigmentation of the ear. (d) Osler's sign in eye

Click here to view


The patient had left-sided foot drop, and the movement of lumbosacral (LS) spine was restricted and painful. Urine examination showed blackish discoloration of urine upon standing for 1 hour and immediate brownish black discoloration after adding sodium hydroxide solution [Figure 2]a. Benedict's test showed the presence of reducing substance in spite of normal blood sugar levels [Figure 2]b.
Figure 2: (a) Black discoloration of urine after adding sodium hydroxide. (b) Benedict's test showing reducing substance in urine with negative control

Click here to view


In X-ray LS spine and magnetic resonance imaging (MRI), calcification of intervertebral discs, disc degeneration, end plate sclerosis, and narrowing of disc spaces was seen [Figure 3]a and b. X-ray of the left leg showed specks of calcification in Achilles tendon at the site of degeneration [Figure 4]a. MRI of the left leg showed partial tear involving the central part of tendo Achilles with relative sparing of peripheral fibers [Figure 4]b]. MRI of the right leg also revealed degenerative changes in Achilles tendon.
Figure 3: (a) X-ray spine arrowing of disc spaces and calcification of intervertebral discs. (b) Magnetic resonance imaging spine isc degeneration and endplate degeneration

Click here to view
Figure 4: (a) X-ray leg alcification at Achilles tendon. (b) Magnetic resonance imaging leg ear at the central part of tendon Achilles and sparing of peripheral fibers

Click here to view


Skin biopsy from palms and soles without special stains revealed the deposition of brownish yellow pigment in the mid dermis and degeneration of collagen bundles [Figure 5]. Dermoscopy showed bluish green pigmentation in the dermis.
Figure 5: Dermis showing yellowish brown pigment deposition and collagen degeneration (H and E, ×100)

Click here to view


Our patient was diagnosed as a case of alkaptonuria, and she was given a high dose of Vitamin C (1000 mg/day) and was advised for a regular follow-up.

In alkaptonuria, deposition of oxidized and polymerized products of homogentisic acid called benzoquinone acetate in the connective tissues lead to an increasing pigmentation and skeletal incapacity. Ochronotic pigment deposition has been described in the tympanic membrane, ear ossicles, laryngeal and tracheal cartilages, tendons, ligaments, and joints. Grayish black scleral pigmentation occurs between the limbus and medial or lateral canthus of the eye which is known as Osler's sign. The most common disabling complication is ochronotic arthropathy. [2] Ochronotic substance deposition also produces degeneration of the ligaments and tendons.

Our patient had foot drop on the left side due to the rupture of Achilles tendon. The presence of degenerative changes in both Achilles tendons and the tear in the left side mainly involving the major central part of the tendon with relative sparing of the peripheral fibers helped us to correlate the foot drop with alkaptonuria and to rule out traumatic etiology.

The presence of pigment deposition in the dermis differentiated our case from marginal papular keratoderma. [3]

Since homogentisic acid is a reducing substance, Benedict's test can be used as a screening test of alkaptonuria in nondiabetic patients. [4] Even though hyperkeratotic plaques in palms have been reported in few articles from India, [3],[5],[6] foot drop due to Achilles tendon rupture and pigmented plaques in the margins of soles seen in our patient are the rarely reported manifestations of alkaptonuria. [6],[7]

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
   References Top

1.
Fernández-Cañón JM, Granadino B, Beltrán-Valero de Bernabé D, Renedo M, Fernández-Ruiz E, Peñalva MA, et al. The molecular basis of alkaptonuria. Nat Genet 1996;14:19-24.  Back to cited text no. 1
    
2.
La Du BN. Alkaptonuria. In: Scriver CR, Beaudet AL, Sly WS, editors. The Metabolic and Molecular Basis of Inherited Disease. 8 th ed. New York: McGraw-Hill; 2001. p. 219-23.  Back to cited text no. 2
    
3.
Vasudevan B, Sawhney MP, Radhakrishnan S. Alkaptonuria associated with degenerative collagenous palmar plaques. Indian J Dermatol 2009;54:299-301.  Back to cited text no. 3
[PUBMED]  Medknow Journal  
4.
Seegmiller JE, Zannoni VG, Laster L, La Du BN. An enzymatic spectrophotometric method for the determination of homogentisic acid in plasma and urine. J Biol Chem 1961;236:774-7.  Back to cited text no. 4
    
5.
Tharini G, Ravindran V, Hema N, Prabhavathy D, Parveen B. Alkaptonuria. Indian J Dermatol 2011;56:194-6.  Back to cited text no. 5
[PUBMED]  Medknow Journal  
6.
Pandhi D, Singal A, Sharma S, Agrawal S. Pigmented palmo-plantar papules and plaques. Indian J Dermatol 2014;59:636.  Back to cited text no. 6
[PUBMED]  Medknow Journal  
7.
Dogra A, Bajwa GS, Bajwa N, Khurana S. Alkaptonuria. Indian J Dermatol Venereol Leprol 2001;67:271-2.  Back to cited text no. 7
[PUBMED]  Medknow Journal  


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]



 

Top
Print this article  Email this article
 
 
  Search
 
  
    Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
    Article in PDF (1,397 KB)
    Citation Manager
    Access Statistics
    Reader Comments
    Email Alert *
    Add to My List *
* Registration required (free)  


    References
    Article Figures

 Article Access Statistics
    Viewed1298    
    Printed5    
    Emailed0    
    PDF Downloaded38    
    Comments [Add]    

Recommend this journal