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Year : 2022  |  Volume : 23  |  Issue : 2  |  Page : 162-164

Dermoscopic features of wilson's disease

Department of Dermatology, Venereology and Leprosy, Government Medical College, Bhavnagar, Bhavnagar, Gujarat, India

Date of Submission25-Dec-2021
Date of Decision15-Jan-2022
Date of Acceptance26-Jan-2022
Date of Web Publication30-Mar-2022

Correspondence Address:
Dr. Rashmiben Sabbirali Agharia
Department of Dermatology, Venereology and Leprosy, Government Medical College, Bhavnagar, Gujarat
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijpd.ijpd_181_21

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Wilson's disease (WD) is characterized by predominantly hepatic, neurological, ophthalmic, and psychiatric manifestations. Early clinical features are nonspecific and sometimes maybe misleading in establishing a definitive diagnosis, especially in younger patients and with concurrent other infections. In contrast to this, dermatological manifestations of WD including skin, mucosa, nail, and hair examination may be indicative of a diagnosis of disease, particularly in early cases. Here, we have reported dermoscopic and trichoscopic findings of the 11-year-old male patient.

Keywords: Dermoscopy, skin and hair examination, trichoscopy, Wilson's disease

How to cite this article:
Agharia RS, Mehta HH, Gorasiya AR, Somani SP. Dermoscopic features of wilson's disease. Indian J Paediatr Dermatol 2022;23:162-4

How to cite this URL:
Agharia RS, Mehta HH, Gorasiya AR, Somani SP. Dermoscopic features of wilson's disease. Indian J Paediatr Dermatol [serial online] 2022 [cited 2022 May 17];23:162-4. Available from: https://www.ijpd.in/text.asp?2022/23/2/162/341469

  Introduction Top

Wilson's disease (WD) is a rare inherited autosomal recessive disorder[1] with a genetic defect of the copper metabolism. Worldwide prevalence ranges from 1 in 30,000 to 1 in 1,00,000, but it is perhaps more common in India.[2] There is a mutation in the ATP7B gene that encodes a copper transport protein on chromosome 13[2],[3] leading to the accumulation of copper into different tissues, resulting in various clinical manifestations.[3] Dermoscopy is a noninvasive imaging modality, which visualizes subtle clinical patterns of skin lesions and subsurface skin structures not normally visible to the naked eye, thus providing additional morphological information during clinical examination of skin lesions.[4] So far, dermoscopic description of WD has been lacking in the literature as per our knowledge.

  Case Report Top

An 11-year-old male child born of nonconsanguineous marriage was referred by the pediatric department for cutaneous lesions associated with pruritus for the last 2–3 months. He was having a history of generalized swelling predominantly involving the abdomen, face, and distal extremities one and a half months ago for which he went to the pediatric department and investigated further. There was a history of neonatal jaundice (physiological) for which he was treated by phototherapy. There was no history of fever, weakness, epistaxis, hematemesis, melena, other bleeding disorder, and delayed developmental milestones. His scholastic performance was satisfactory. He was the youngest of three siblings, and the first two were healthy with normal developmental milestones. Examination reveals diffuse xerosis containing grayish-brown scales with adherent center and outer free edge present on the face, trunk, and extremities. Few areas showed exfoliation revealing underlying normal skin. There was the presence of pyodermic lesions of size ranging from 1 cm to 3 cm with few raw areas involving the lower back, buttocks, and lower extremities. Nail and mucosal examination were normal.

[Figure 1], [Figure 2], [Figure 3], [Figure 4]
Figure 1: Diffuse grayish-brown non foul - smelling, non greasy scales with adherent center, and outer free edge present on the face

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Figure 2: Diffuse grayish-brown nonfoul-smelling, non- greasy scales with adherent center, and outer free edge present on the chest and abdomen

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Figure 3: Diffuse grayish-brown non foul-smelling, nongreasy scales with adherent center, and outer free edge present back with associated discrete pyodermic lesions and few raw areas over the lower back

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Figure 4: Diffuse grayish-brown non-foul-smelling, non greasy scales with adherent center, and outer free edge present on both lower extremities with associated discrete pyodermic lesions and few raw areas

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He was investigated as follows: hemoglobin 11.9, total leukocyte counts 10400, platelet count 300000, SGPT 25 IU/L, SGOT 36 IU/L, serum ceruloplasmin 9.38 mg/dl (15–30), 24-h urinary copper 18.6 microgram/24 h (15–60), serum creatinine 0.5 mg/dl, serum urea 19 mg/dl, and ophthalmological slit-lamp examination showed Keyser‒Fleischer ring seen in bilateral eyes. He was treated with D-penicillamine 1 g/day and zinc sulfate 10 mg/kg/day as per pediatrician advice.

[Figure 5]
Figure 5: Mosaic pattern of brownish structure with irregular in size, shape (red circle), peripheral whitish collarette-like scales, broken pigmentary network (black arrow) in between whitish structureless area (yellow arrow) on × 10 magnification in polarized mode

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His trichoscopic findings showed hyperpigmented cortex and medulla in root area which gradually diluted to golden-yellow pigmentation toward its distal end, intact hair shaft with few peripilar scales, single-hair follicular unit, and few vellus hairs with accentuated brownish hyperpigmentary patches over the background in a polarized mode with ×70 magnification depicted in [Figure 3].

[Figure 6]
Figure 6: Hyperpigmented cortex and medulla in root area which gradually diluted to golden-yellow pigmentation (sky blue arrow) toward its distal end with an intact hair shaft in a polarized mode with × 70 magnification

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  Discussion Top

In early cases of WD, mucocutaneous manifestations including the skin, mucosa, nail, and hair examination may have more relevance.[5] Dermoscopy of WD has been lacking in the literature. In our case, we saw the mosaic pattern of brownish structure, particularly with irregular in size, shape, and in between white structureless area. The brownish structures on dermoscopy are thought to be due to an increase in copper-dependent tyrosinase activity in melanosomes of melanocytes[6] which gives a brownish hue. Apart from this, an interesting feature of our case was the diffuse presence of ichthyotic-like scales over the body. Hence, our aided features will further be helpful to differentiate it from other forms of generalized ichthyosis depicted in tabulation [Table 1]. In addition, we also observed trichoscopic golden-yellow pigmentation of hair in our case.
Table 1: Comparison among dermoscopic findings of various generalized ichthyosis

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  Conclusion Top

As new insights were provided by using dermoscopy and trichoscopy, we showed its potential to narrow down the various differential diagnoses and early diagnoses of WD.

Declaration of consent

The authors certify that they have obtained all appropriate consent forms, duly signed by the parent(s) of the patient. In the form the parent(s) has/have given his/her/their consent for the images and other clinical information of their child to be reported in the journal. The parents understand that the names and initials of their child will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.[7]

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Rodriguez-Castro KI, Hevia-Urrutia FJ, Sturniolo GC. Wilson's disease: A review of what we have learned. World J Hepatol 2015;7:2859-70.  Back to cited text no. 1
Saito T. Presenting symptoms and natural history of Wilson disease. Eur J Pediatr 1987;146:261-5.  Back to cited text no. 2
Steindl P, Ferenci P, Dienes HP, Grimm G, Pabinger I, Madl C, et al. Wilson's disease in patients presenting with liver disease: A diagnostic challenge. Gastroenterology 1997;113:212-8.  Back to cited text no. 3
Zalaudek I, Argenziano G, Di Stefani A, Ferrara G, Marghoob AA, Hofmann-Wellenhof R, et al. Dermoscopy in general dermatology. Dermatology 2006;212:7-18.  Back to cited text no. 4
Gow PJ, Smallwood RA, Angus PW, Smith AL, Wall AJ, Sewell RB. Diagnosis of Wilson's disease: An experience over three decades. Gut 2000;46:415-9.  Back to cited text no. 5
Setty SR, Tenza D, Sviderskaya EV, Bennett DC, Raposo G, Marks MS. Cell-specific ATP7A transport sustains copper-dependent tyrosinase activity in melanosomes. Nature 2008;454:1142-6.  Back to cited text no. 6
Gajjar PC, Mehta HH, Gosai M. Dermoscopy of congenital dermatoses in pediatric age group: An observational study. Indian J Paediatr Dermatol 2019;20:219.  Back to cited text no. 7
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  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]

  [Table 1]


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