Congenital deafness and multiple lentigines. A report of cases in a mother and daughter

Capute, A. J.

doi:10.1001/archderm.100.2.207

Cited by 6 publications

(3 citation statements)

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“…Nevertheless most cases of widespread lentiginosis are associated with a variety of physical non-cutaneous abnormalities affecting the cardiac, musculoskeletal, neurological, reproductive, gastrointestinal and auditory system [21,22,23,24,25,26,27,28,29,30,31,32,33,34,35]. LEOPARD syndrome and Carney complex (LAMB and NAME syndrome) are well-characterized disorders, both showing autosomal dominant hereditary patterns [21,36,37].…”

Section: Discussionmentioning

confidence: 99%

Generalized Solar Lentigines in a Patient with a History of Radon Exposure

Mauerer

Betz²,

Pasternack³

et al. 2010

Dermatology

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A woman with generalized lentigines without associated non-cutaneous abnormalities is described. The patient showed brownish-pigmented flat or slightly elevated spots with a diameter of 1–5 mm. The histopathology of the lesions was compatible with a diagnosis of solar lentigines (SLs) or flat seborrhoeic keratosis. Unlike SLs, which develop typically on sun-damaged skin of the face, the dorsum of the hands and forearms, this patient showed the lentigines most prominently on the thighs and lower legs. Besides increased recreational UV exposure, the patient had a history of occupational radon exposure in a spa with radon-containing water. Genetic analysis identified a p.S249C FGFR3 hotspot mutation in 1 lesion, supporting the diagnosis of SLs. It remains elusive whether the occupational exposure to radon-containing water in addition to the recreational UV light exposure caused the unusual distribution of the SLs in this patient.

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Section: Discussionmentioning

confidence: 99%

Generalized Solar Lentigines in a Patient with a History of Radon Exposure

Mauerer

Betz²,

Pasternack³

et al. 2010

Dermatology

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“…We reported that noncoding variants of human HGF cause nonsyndromic hearing loss DFNB39 in many human families (20), and a likely pathogenic variant in MET is associated with DFNB97-linked hearing loss (21). Moreover, deficits of SHP2 and SPRY2 result in hearing loss in humans and mice, respectively (22)(23)(24). Therefore, using real-time PCR and lymphoblastoid cell lines generated from the affected and nonpenetrant individuals of family PK-2, we studied the expression of 37 genes related to HGF signaling ( Figure 8) (25,26).…”

Section: Dfnb26 Allele Effects On the Lipid-binding Ability Of The Gamentioning

confidence: 99%

Modifier variant of METTL13 suppresses human GAB1–associated profound deafness

Yousaf¹,

Ahmed²,

Giese³

et al. 2018

Journal of Clinical Investigation

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“…LEOPARD syndrome (lentigines, electrocardiographic abnormality, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retardation of growth, and deafness) (1) is a rare autosomal dominant disorder. Synonyms for this disorder include multiple lentigines syndrome, generalized lentiginosis, cardiocutaneous syndrome, lentiginosis profusa syndrome, and progressive cardiomyopathic lentiginosis (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11). There are several hypotheses regarding the pathogenesis of this syndrome (such as a mutation in the stem cell pool of the neuroectoderm) (2).…”

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confidence: 99%

LEOPARD Syndrome with a New Association of Congenital Corneal Tumor, Choristoma

Choi

Yoo

Park

et al. 2003

Pediatric Dermatology

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A 5-year-old girl with a family history of LEOPARD syndrome had multiple lentigines on the face and trunk, hypertelorism, and growth retardation. In addition, she had congenital corneal tumors on both eyes. Histologically the tumors were choristoma. The neuroectodermal origin hypothesis of LEOPARD syndrome could explain the presence of a congenital corneal tumor in this patient. We suggest that corneal tumor may represent an unrecognized associated finding in this syndrome.

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Congenital deafness and multiple lentigines. A report of cases in a mother and daughter

Cited by 6 publications

References 0 publications

Generalized Solar Lentigines in a Patient with a History of Radon Exposure

Generalized Solar Lentigines in a Patient with a History of Radon Exposure

Modifier variant of METTL13 suppresses human GAB1–associated profound deafness

LEOPARD Syndrome with a New Association of Congenital Corneal Tumor, Choristoma

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