China
Africa
Explore chapters and articles related to this topic
Disorders of pigmentation
Published in Rashmi Sarkar, Anupam Das, Sumit Sethi, Concise Dermatology, 2021
There are several other types of albinism, most of which are recessive. In the Hermanski–Pudlak syndrome, there is an associated clotting defect due to a platelet abnormality. Patients have a bleeding tendency, interstitial pulmonary fibrosis, and granulomatous colitis. This is ‘tyrosinase positive’ and hair bulbs turn black after they are incubated with l-DOPA. Chediak–Higashi syndrome is characterized by severe immunodeficiency and silvery-white hair, and the histology is classical, showing giant melanosomes within melanocytes. Griscelli syndrome, on the other hand, is a severe immunological disorder with hemophagocytic syndrome in addition to having silvery-white hairs and pigmentary dilution of skin. Waardenburg syndrome is a distinct entity manifesting as achromia of skin, hairs, and eyes, heterochromia iridis, congenital deafness, broad nasal root, and dystopia canthorum. The hallmark finding in piebaldism is white forelock and the presence of normal skin within the depigmented patches.
Differential Diagnosis
Published in Vineet Relhan, Vijay Kumar Garg, Sneha Ghunawat, Khushbu Mahajan, Comprehensive Textbook on Vitiligo, 2020
Hemant Kumar Kar, Gunjan Verma
Vitiligo should be differentiated from Waardenburg syndrome, which is also an autosomal dominant disorder with a similar clinical presentation. It is associated with heterochromia iridis, dystopia canthorum, congenital deafness, and occasionally a congenital megacolon (Hirschsprung disease). Waardenburg syndrome is an expression of a neurocristopathy, involving not only the melanocytes in the skin but also those at the level of the eyes, hair, cochlea, and meninges. Four subtypes have been identified. Piebaldism is comparable to these depigmented macules. However, the predominantly ventral distribution of the lesions, congenital character, stable course, white forelock, and the presence of hyperpigmented maculae within the areas of depigmentation are suggestive for piebaldism [6].
Approach to hypopigmentation
Published in Electra Nicolaidou, Clio Dessinioti, Andreas D. Katsambas, Hypopigmentation, 2019
Clio Dessinioti, Andreas D. Katsambas
Waardenburg syndrome (WS): Autosomal dominant genetic disorder characterized by piebaldism and sensorineural deafness. The disease is commonly classified into four clinical types with possible extracutaneous findings.1,11,12
A case of Waardenburg syndrome type I with congenital sensorineural hearing loss
Published in Acta Oto-Laryngologica Case Reports, 2023
Quang Minh Le-Tran, Duc Phu Nguyen, Quang Huy Huynh
Waardenburg syndrome (WS) is a genetic disorder that can cause hearing loss and changes in coloring of the hair, skin and eyes. This syndrome was first described by the Dutch Ophthalmologist Petrus Johannes Waardenburg in 1951 [1]. It affects 1 in 40000 births and accounts for 2–5% of all cases of congenital hearing loss. Males and females were affected relatively equally. In most cases, WS is inherited as autosomal dominant manner. However, some cases appear to have an autosomal recessive pattern of inheritance [2,3].
Risk factors and etiology of childhood hearing loss: a cohort review of 296 subjects
Published in Acta Oto-Laryngologica, 2020
Kai Niu, Anni Brandström, Sara Skenbäck, Maoli Duan, Inger Uhlén
Besides, Kim et al. [17] reported a strong association between the heritability of USNHL and the pigmentary abnormality and suggested Waardenburg syndrome as one of the important differential diagnosis of USNHL especially in a familial form. No case with Waardenburg syndrome was identified in the present study. The differences between the study of Kim and the present study could be attributed to the different patient populations.
Asymmetric choroidal hypopigmentation in a Son and mother with Waardenburg syndrome type I
Published in Ophthalmic Genetics, 2020
Parampal S. Grewal, Hannah Knight, Michel Michaelides
Waardenburg Syndrome is a rare autosomal dominant auditory-pigmentary disorder first described by Dutch Ophthalmologist and Geneticist, P.J. Waardenburg in 1951 (1). Waardenburg syndrome is subdivided into types I to IV based on the specific clinical features (2).