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: 2721  
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 
E-IJD SHORT COMMUNICATION
Year : 2015  |  Volume : 60  |  Issue : 6  |  Page : 636
Dyschromias: A series of five interesting cases from India


Department of Dermatology, Venereology and Leprosy, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India

Date of Web Publication5-Nov-2015

Correspondence Address:
Prabhu Namitha
House Number- 58, 1st Cross, Garudachar Marga, Vijayanagar, 3rd Stage, 'C' Block, Mysore - 570017
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0019-5154.169149

Rights and Permissions

   Abstract 

Dyschromatosis is a pigmentary genodermatosis which presents with hyper and hypopigmented skin lesions giving a mottled appearance. It is a rare entity in India reported mainly in the East Asian population. Classically, two forms have been described; dyschromatosis universalis hereditaria (DUH) and dyschromatosis symmetrica hereditaria. Here we report four cases of DUH and one case of dyschromatosis symmetrica hereditaria from India.


Keywords: Dyschromatoses, dyschromias, dyschromatosis symmetrica hereditaria, dyschromatosis universalis hereditaria


How to cite this article:
Namitha P, Sacchidanand S. Dyschromias: A series of five interesting cases from India. Indian J Dermatol 2015;60:636

How to cite this URL:
Namitha P, Sacchidanand S. Dyschromias: A series of five interesting cases from India. Indian J Dermatol [serial online] 2015 [cited 2019 Sep 21];60:636. Available from: http://www.e-ijd.org/text.asp?2015/60/6/636/169149

What was known?

  • Dyschromatosis universalis hereditaria (DUH) and dyschromatosis symmetrica hereditaria (DSH) are reticulate pigmentary dermatoses which mainly have an autosomal dominant inheritance.
  • Epilepsy, short stature, deafness, Dowling-Degos disease, albinism, tuberous sclerosis, ocular abnormalities, photosensitivity, learning difficulties, mental retardation, insulin-dependent diabetes mellitus, and erythrocyte, platelet, and tryptophan metabolism abnormalities are the rarely reported associations of DUH.



   Introduction Top


Dyschromatosis is a rare genodermatosis which is characterized by hyper and hypo pigmented macules of variable shape and size. [1] Both autosomal dominant and autosomal recessive forms have been reported. [2] These disorders are reported mainly from Japan. Only a few cases have been reported from other countries. Hence, we are reporting five cases from India.


   Case Report Top


Case one was a 30-year-old male patient who presented with asymptomatic multiple hypopigmented, and hyperpigmented skin lesions all over the body [Figure 1]a and b since the age of 10 years. The initial lesions started in the chest and then spread to the entire body in 2 years. There was no history of photosensitivity or handling of any chemical or any history of drug intake. None of the family members was affected. The skin did not reveal atrophy or telangiectasia. His palms, soles, and mucous membranes were within normal limits. Hair and nails were normal. Systemic examination was normal. Skin biopsy from the hyperpigmented macules showed the increased melanin pigmentation [Figure 2]a, and the hypopigmented macules showed a marked decrease in the epidermal basal melanin [Figure 2]b. Based on these findings, a diagnosis of dyschromatosis universalis hereditaria (DUH) was made.
Figure 1: (a and b) Case one with multiple hypopigmented and hyperpigmented macules all over the body

Click here to view
Figure 2: Photomicrograph depicting marked increase in the epidermal basal melanin from the hyperpigmented macules (a) and decrease in the epidermal basal melanin from the hypopigmented macules (b) of all the five cases (H and E, ×400)

Click here to view


Case two was a 22-year-old male presenting to our outpatient department with asymptomatic multiple hypo and hyperpigmented macules all over the body [Figure 3] since 12 years. There was no other significant positive clinical findings.
Figure 3: Case two with multiple hypopigmented and hyperpigmented macules all over the body

Click here to view


Case three was a 14-year-old boy who presented with similar lesions all over the body [Figure 4]a and b since the age of 2 years. His palms [Figure 5] and soles also showed similar mottled pigmentation. He was born to parents of second degree consanguinous marriage. He also had multiple verucca vulgaris over the left arm and dorsum of hands [Figure 4]c. He had recurrent upper respiratory tract infections and severe growth retardation and mental retardation. Peripheral blood smear showed a normocytic normochromic blood picture with leucopenia and eosinophilia.
Figure 4: Case three with similar reticulate pigmentation all over the body (a and b); broad nasal bridge, long philtrum (a) with verucca vulgaris on the dorsum of right hand (c)

Click here to view
Figure 5: Depicts case three and case four with palms showing similar mottled pigmentation

Click here to view


Case four was the 9-year-old sibling of the 14-year-old boy who revealed similar lesions all over the body [Figure 6] since 9 months of age. Similar lesions were seen in his palms [Figure 5] and soles also. He had recurrent pyodermas [Figure 6]a since birth. On examination, he had molluscum contagiosum lesions [Figure 6]b on the face. Both the siblings also had a broad nasal bridge, long philtrum, and high arched palate. The possibility of primary immunodeficiency was kept and baseline immunodeficiency workup was done. His serum immunoglobulin assay was normal and human immunodeficiency virus one and two tests (ELISA) were negative. Both the brothers had hypopigmented, and hyper pigmented macules of varying sizes all over the body. Histopathology showed similar features as that of the first case.
Figure 6: Case four with similar reticulate pigmentation all over the body, abscess over the forehead, molluscum contagiosum; broad nasal bridge, long philtrum

Click here to view


Based on these findings, a diagnosis of DUH was made in all the four cases. The other differential diagnosis in all these four cases included xeroderma pigmentosum, dyschromatosis symmetrica hereditaria, dyschromic amyloidosis, and disorders due to chemical exposure such as diphenylcyclopropenone, and monobenzyl ether of hydroquinone. Absence of photosensitivity, atrophy, telangiectasia, eye involvement and benign nature of the condition makes xeroderma pigmentosum unlikely. These lesions were differentiated from DSH in which the lesions occur in a more acral distribution. The disorder was also differentiated from dyschromic amyloidosis by the absence of predominant lesions in the sun exposed areas and absence of amyloid deposits in the papillary dermis.

Case five was a 21-year-old male who presented with asymptomatic multiple hypo and hyperpigmented skin lesions over the extremities [Figure 7] since the age of 1-year. There was no family history of similar lesions. His palms and soles were normal. There was no other significant positive history. Biopsy from the hypopigmented macules showed decreased melanin pigmentation whereas biopsy from the hyperpigmented macules showed increased focal melanin in the basal layer. Based on these clinical features, a diagnosis of dyschromatosis symmetrica hereditaria was made. Other possibilities such as DUH, and reticulate acropigmentation of Kitamura were included in the differentials. DUH was ruled out as it is characterized by more extensive lesions including the non acral/unexposed areas of the body. Further, the disease is differentiated from reticulate acropigmentation of Kitamura by the absence of atrophic macules, palmar pits or breaks in the epidermal ridge pattern.
Figure 7: Case five with similar lesions over the extremities

Click here to view


The features of all these five cases have been summarized in [Table 1].
Table 1: Summarizes the clinical features of the five cases of dyschromias


Click here to view



   Discussion Top


Reticulate pigmentary dermatoses (RPD) comprise a rare group of disorders, characterized by hyperpigmented and hypopigmented macules coalescing to form a reticular pattern. [3] RPDs are divided into two broad categories: Acral RPD and generalized RPD. The various acral RPD includes reticulate acropigmentation of Kitamura, acropigmentation of Dohi, acromelanosis heterochromia extremitarium, and dyschromatosis symmetrica hereditaria (DSH). The differential diagnoses of generalized RPD are DUH, dermatopathia pigmentoreticularis, Naegeli-Franceschetti-Jadassohn syndrome, and dyskeratosis congenita (DKC). [4]

Dyschromatosis is a spectrum of disease which includes DUH, dyschromatosis symmetrica hereditaria (DSH) or acropigmentation of Dohi and a segmental form called unilateral dermatomal pigmentary dermatosis. [5] Dyschromatosis symmetrica hereditaria was first described by Toyama in 1929. [6] DUH, a rare autosomal dominant genodermatosis was first described by Ichikawa and Hiraga in 1933. [7] DUH is characterized by the presence of both hyperpigmented and hypopigmented, small, irregular macules distributed symmetrically all over the body. [8] Most cases present early in life. [4] Late onset of the disease has been reported. [9] These cases usually do not progress or worsen as age advances, once well established. [10] The pigmented macules vary in size and depth of color. [10] Theses macules are usually smaller (1-5 mm), but larger macules measuring up to 15 cm have been reported. [9] The trunk and the extremities are commonly involved. [11] The face is generally not involved, and there is sparing of the palms, soles, and mucous membranes. [8]

Various systemic associations including small stature and high-tone deafness, [12] Dowling-Degos disease, [8] X-linked ocular albinism, [8] tuberous sclerosis [8] have been described. Many other associated conditions have been reported, such as ocular abnormalities, photosensitivity, learning difficulties, mental retardation, epilepsy, insulin-dependent diabetes mellitus, and erythrocyte, platelet and tryptophan metabolism abnormalities. [9] DUH is thought to occur secondary to the interference with the neural-melanocytic interaction in early embryonic life in those who are genetically susceptible. [10] The gene responsible for DUH has been mapped to 6q24.2-q25.2 (OMIM 127500). Because the exact biochemical basis of the gene defect is unknown, the diagnosis generally relies on the external phenotype. [8]

Here we report four cases of DUH. Two cases had a family history of similar complaints. One case was associated with mental and growth retardation, recurrent respiratory tract infection, verucca vulgaris; and his younger brother had recurrent pyoderma with molluscum contagiosum. Both the brothers had characteristic facies of high arched palate, broad nasal root, and long philtrum.

We also report one case of dyschromatosis symmetrica hereditaria in a 21-year-old male patient presenting with similar macules over the extremities. Patients with dyschromatosis symmetrica hereditaria (Reticulate acropigmentation of Dohi) present with hyperpigmented and hypopigmented macules on the face and the dorsal aspects of the extremities. [13] It was thought to occur secondary to mutations in RNA specific adenosine deaminase gene. [14] Skin lesions remain localized on extremities in nearly half of the patients and involve face and extremities in the remaining half. [15] Most cases of DSH are inherited as autosomal dominant, although an autosomal recessive variant of DHS has been reported. [16]

Later, novel mutations in the ADRA1 were reported in Chinese families confirming that this gene is responsible for DSH in the different ethnic group. [17],[18] More recently, Suzuki et al. reported 16 novel mutations in the ADRA1 without identifying such mutations in patients with DUH. [19] In a recent ultra-structural skin investigation, Nuber et al. indicated that DUH is a disorder of melanosome synthesis rate or melanocyte activity and not a disorder of melanocyte number. [20]


   Conclusion Top


Dyschromatosis is a benign condition which is usually not associated with systemic involvement which has to be differentiated from conditions like xeroderma pigmentosum, DKC. We report these cases because of their rare occurrence and characteristic facies of high arched palate, broad nasal root, and long philtrum; recurrent respiratory tract infections, verucca vulgaris, molluscum contagiosum, and pyodermas as an association of DUH has not been reported to the best of our knowledge.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
   References Top

1.
Naik CL, Singh G, Rajashekar TS, Okade R. Dyschromatosis universalis hereditaria. Indian J Dermatol 2009;54 Suppl S1:74-5.  Back to cited text no. 1
    
2.
Stuhrmann M, Hennies H, Bukhari I, Brakensiek K, Nürnberg G, Becker C, et al. Dyschromatosis universalis hereditaria: Evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23. Clin Genet 2008;73:566-72.  Back to cited text no. 2
    
3.
Sethuraman G, Srinivas CR, D'Souza M, Thappa DM, Smiles L. Dyschromatosis universalis hereditaria. Clin Exp Dermatol 2002;27:477-9.  Back to cited text no. 3
    
4.
Udayashankar C, Nath AK. Dyschromatosis universalis hereditaria: A case report. Dermatol Online J 2011;17:2.  Back to cited text no. 4
    
5.
Rai R, Kaur I, Handa S, Kumar B. Dyschromatosis universalis hereditaria. Indian J Dermatol Venereol Leprol 2000;66:158-9.  Back to cited text no. 5
[PUBMED]  Medknow Journal  
6.
Toyama J. Dyschromatosis symmetrica hereditaria. Jpn J Dermatol 1929;29:95-6.  Back to cited text no. 6
    
7.
Zhang C, Li D, Zhang J, Chen X, Huang M, Archacki S, et al. Mutations in ABCB6 cause dyschromatosis universalis hereditaria. J Invest Dermatol 2013;133:2221-8. doi: 10.1038/jid.2013.145.  Back to cited text no. 7
    
8.
Binitha MP, Thomas D, Asha LK. Tuberous sclerosis complex associated with dyschromatosis universalis hereditaria. Indian J Dermatol Venereol Leprol 2006;72:300-2.  Back to cited text no. 8
[PUBMED]  Medknow Journal  
9.
Al Hawsawi K, Al Aboud K, Ramesh V, Al Aboud D. Dyschromatosis universalis hereditaria: Report of a case and review of the literature. Pediatr Dermatol 2002;19:523-6.  Back to cited text no. 9
    
10.
Bukhari IA, El-Harith EA, Stuhrmann M. Dyschromatosis universalis hereditaria as an autosomal recessive disease in five members of one family. J Eur Acad Dermatol Venereol 2006;20:628-9.  Back to cited text no. 10
    
11.
Wang G, Li CY, Gao TW, Liu YF. Dyschromatosis universalis hereditaria: Two cases in a Chinese family. Clin Exp Dermatol 2005;30:494-6.  Back to cited text no. 11
    
12.
Rycroft RJ, Calnan CD, Wells RS. Universal dyschromatosis, small stature and high-tone deafness. Clin Exp Dermatol 1977;2:45-8.  Back to cited text no. 12
    
13.
Oyama M, Shimizu H, Ohata Y, Tajima S, Nishikawa T. Dyschromatosis symmetrica hereditaria (reticulate acropigmentation of Dohi): Report of a Japanese family with the condition and a literature review of 185 cases. Br J Dermatol 1999;140:491-6.  Back to cited text no. 13
    
14.
Miyamura Y, Suzuki T, Kono M, Inagaki K, Ito S, Suzuki N, et al. Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria. Am J Hum Genet 2003;73:693-9.  Back to cited text no. 14
    
15.
Mohana D, Verma U, Amar AJ, Choudhary RK. Reticulate acropigmentation of dohi: A case report with insight into genodermatoses with mottled pigmentation. Indian J Dermatol 2012;57:42-4.  Back to cited text no. 15
[PUBMED]  Medknow Journal  
16.
Barzegari M, Kiavash K. Dyschromatosis symmetrica hereditaria (reticulate acropigmentation of dohi): First report from Iran. Indian J Dermatol 2009;54 Suppl S1:11-3.  Back to cited text no. 16
    
17.
Li M, Jiang YX, Liu JB, Yang S, He PP, Gao M, et al. A novel mutation of the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria. Clin Exp Dermatol 2004;29:533-5.  Back to cited text no. 17
    
18.
Liu Q, Liu W, Jiang L, Sun M, Ao Y, Zhao X, et al. Novel mutations of the RNA-specific adenosine deaminase gene (DSRAD) in Chinese families with dyschromatosis symmetrica hereditaria. J Invest Dermatol 2004;122:896-9.  Back to cited text no. 18
    
19.
Suzuki N, Suzuki T, Inagaki K, Ito S, Kono M, Fukai K, et al.Mutation analysis of the ADAR1 gene in dyschromatosis symmetrica hereditaria and genetic differentiation from both dyschromatosis universalis hereditaria and acropigmentatio reticularis. J Invest Dermatol 2005;124:1186-92.  Back to cited text no. 19
    
20.
Nuber UA, Tinschert S, Mundlos S, Hauber I. Dyschromatosis universalis hereditaria: Familial case and ultrastructural skin investigation. Am J Med Genet A 2004;125A:261-6.  Back to cited text no. 20
    

What is new?

  • DUH and DSH can present without a family history of similar complaints which has been rarely reported.
  • DUH can be associated with characteristic facies of high arched palate, broad nasal root and long philtrum, recurrent respiratory tract infections, verucca vulgaris, molluscum contagiosum, and pyodermas.


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7]
 
 
    Tables

  [Table 1]



 

Top
Print this article  Email this article
 
 
  Search
 
  
    Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
    Article in PDF (1,697 KB)
    Citation Manager
    Access Statistics
    Reader Comments
    Email Alert *
    Add to My List *
* Registration required (free)  


    Abstract
   Introduction
   Case Report
   Discussion
   Conclusion
    References
    Article Figures
    Article Tables

 Article Access Statistics
    Viewed2416    
    Printed18    
    Emailed0    
    PDF Downloaded89    
    Comments [Add]    

Recommend this journal