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SynopsisTietz syndrome is an extremely rare genetic disease that is characterized by generalized hypopigmentation and congenital sensorineural deafness. Very few pedigrees with Tietz syndrome have been reported in the literature, and the exact disease incidence / prevalence is unknown.
Tietz syndrome is caused by deleterious mutations in the melanocyte-induced transcription factor (MITF) gene, which serves as an important regulator of melanocyte differentiation and maturation. It is inherited in an autosomal dominant fashion with high penetrance and expressivity. The manifestations associated with Tietz syndrome are evident from birth.
Melanocytes are critical for pigmentation of the skin, hair, and eyes. In addition, they play important roles in the development of the inner ear. Disruption in MITF function results in defects in melanocyte maturation and thereby adversely affects all the aforementioned structures. Patients with Tietz syndrome have generalized light skin with scattered freckles on sun-exposed areas. Hair is white or blond, and eyes are usually blue. Nearly all reported patients have sensorineural hearing loss that is congenital, bilateral, and severe.
E70.39 – Other specified albinism
403805009 – Albinism-deafness syndrome of Tietz
Differential Diagnosis & Pitfalls
- Waardenburg syndrome, type 2 (WS2) – WS2 is also caused by MITF mutations and presents with skin hypopigmentation and sensorineural hearing loss. However, the skin depigmentation is patchy, and not all patients present with deafness.
- Oculocutaneous albinism (OCA) – OCA patients typically do not have profound sensorineural hearing loss, and most subtypes are not inherited in an autosomal dominant fashion.
- Albinism, black lock, cell migration, and deafness (ABCD) disorder
- Chediak-Higashi syndrome
- Hermansky-Pudlak syndrome
- Griscelli syndrome