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CASE REPORT
Year : 2022 | Volume
: 23
| Issue : 2 | Page : 162-164
Dermoscopic features of wilson's disease
Rashmiben Sabbirali Agharia, Hita H Mehta, Amitkumar Rameshbhai Gorasiya, Shreya Pradipbhai Somani
Department of Dermatology, Venereology and Leprosy, Government Medical College, Bhavnagar, Bhavnagar, Gujarat, India
Correspondence Address:
Dr. Rashmiben Sabbirali Agharia
Department of Dermatology, Venereology and Leprosy, Government Medical College, Bhavnagar, Gujarat
India
Source of Support: None, Conflict of Interest: None
CheckDOI: 10.4103/ijpd.ijpd_181_21
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
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 ReportAn 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
Figure 2: Diffuse grayish-brown nonfoul-smelling, non- greasy scales with adherent center, and outer free edge present on the chest and abdomen
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
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 areasHe 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: 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 modeHis 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: 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 Discussion 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 Conclusion 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
Nil.
Conflicts of interest
There are no conflicts of interest.
References
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