Dermatological signs in Wilson’s disease

Abstract

Dermatologist should be aware of the various dermatological manifestations of Wilson's disease, because a careful and objective skin, mucosa, nail and hair examination may be indicative of a diagnosis of Wilson's disease, particularly in early cases.

Spectrum of cutaneous manifestations in Wilson’s disease in children in a tertiary care center in South India: a prospective study

“…Turkish study reported the frequency of xerosis in 11.8% of healthy children indicating that the prevalence of Xerosis in children with WD is higher than healthy children. 13 Infections like pityriasis versicolor, wart, molluscum contagiosum, impetigo and scabies were seen in one third of our children though less common similar to Seyhan M et al 9 Mucosal involvement was seen in 36.7% (cheilitis -6 patients) and more in malnourished children which was higher than observed Seyhan M et al (10.8%). 9 Hair involvement was seen in 46.7% and trichomegaly, the excessive growth of eyelashes was the most common manifestation seen in 9 patients (30%) followed by sparse hair.…”

“…The results were thus concordant with Seyhan M et al with the most prevalent cutaneous manifestation being xerosis with a frequency of 45.7% (n = 17) and pruritus observed in 9 patients (24.3%) with portal hypertension. 9 Pigmentary changes in the form hyperpigmentation was observed in 8 patients (29.6%) mainly involving the lower extremities, pityriasis alba in 2 patients (7.4%), both of whom were malnourished and acanthosis nigricans in 1 patient was observed which was more compared to Seyhan M et al study. 9 The skin hyperpigmentation is due to increased melanin in basal cell layer without alteration of skin structure or increased copper deposition.…”

“…According to Seyhan M et al, 26 (70.3%) had at least one dermatological finding with 25 (67.6%), 5 (13.5%), 9 (24.3%) patients having skin, mucosal and nail findings, respectively. 9 Xerosis was the most common manifestation seen in 63.3% patients, followed by pigmentation in 36.7% and infection in 30%. Icterus and pruritus were seen in 6 patients (20%) each and were associated with portal hypertension in 5 patients.…”

“…In children, 70% have at least one skin or mucosal finding including xerosis (46%) and white bands on the nails (19%). 9 It is classically associated with blue lunulae of the nails (10%), grey-brown macular hyperpigmentation especially of the lower extremities where it may have a rippled appearance and a vague greenish discoloration of the skin of the face, neck, and genitalia.…”

“…9 The vascular changes occur due to vasodilation from increased prostacyclins and nitric oxide that accumulate in patients with liver disease. It is also associated with increased estrogen and estrogen/androgen ratio.…”