1988
DOI: 10.1002/ajmg.1320300412
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The ermine phenotype: Pigmentary‐hearing loss heterogeneity

Abstract: The term ermine phenotype has been chosen to describe patients with white hair with black tufts. The patients also have sensorineural hearing loss. This rare phenotype may come about either by failure of migration of melanocytes or by an autoimmune mechanism. Examples of each are cited. The authors describe a possible third type. Comparison with other pigment loss-sensorineural hearing loss syndromes is made.

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Cited by 12 publications
(3 citation statements)
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“…This patient's phenotype is very similar to that described by O'Doherty and Gorlin 1988. They refer to the pigmentary abnormalities as “Ermine phenotype” because it was associated with a changing pigmentary phenotype with hair changing from pigmented to white.…”
Section: Discussionsupporting
confidence: 80%
See 1 more Smart Citation
“…This patient's phenotype is very similar to that described by O'Doherty and Gorlin 1988. They refer to the pigmentary abnormalities as “Ermine phenotype” because it was associated with a changing pigmentary phenotype with hair changing from pigmented to white.…”
Section: Discussionsupporting
confidence: 80%
“…We describe a 9‐year‐old girl with an unusual pigmentary disorder, associated with global developmental delay, growth retardation, microcephaly and bilateral hearing loss. A similar phenotype had been described once previously and labeled “Ermine phenotype” [O'Doherty and Gorlin, 1988]. We describe a second patient including the microscopic findings in this rare but recognizable condition.…”
Section: Introductionsupporting
confidence: 75%
“…Mental retardation is not present in any of these conditions. One patient with skin depigmentation described as ‘‘marked vitiligo,’’ white hair, eyebrows and eyelashes with scattered black tufts, sensorineural hearing loss and mild mental retardation has been reported (6), with a probable autosomal recessive inheritance. On the other hand, the combination of mental retardation, oculocutaneous albinism, short stature and congenital deafness has been found in two oculocerebral hypopigmentation syndromes (OCHS), Cross type and Preus type.…”
Section: Discussionmentioning
confidence: 99%