Generalized trichoepitheliomas with alopecia and myasthenia gravis

Miyakawa, Shin; Araki, Yuta; Sugawara, Mariko

doi:10.1016/s0190-9622(88)80256-1

Cited by 25 publications

(12 citation statements)

References 2 publications

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“…Mayou et al 41 described a patient with multiple TEs, alopecia, and antiacetylcholine receptor antibodies. Alopecia and myasthenia gravis were also accompanying features in the patients reported by Brown et al, 42 Weltfriend et al, 43 and Miyakawa et al, 44 all of whom had multiple papular lesions on the face with the histological appearances of basaloid follicular hamartoma. As the above studies were not supplemented by molecular genetic analysis of the PTCH and CYLD genes, one can appreciate only the shared clinical phenotypes and histological features but no phenotype-genotype correlations are possible.…”

Section: Molecular Genetic Findingsmentioning

confidence: 74%

Spectrum of Tumors With Follicular Differentiation in a Patient With the Clinical Phenotype of Multiple Familial Trichoepitheliomas: A Clinicopathological and Molecular Biological Study, Including Analysis of the CYLD and PTCH Genes

Kazakov¹,

Vaněček²,

Němcová³

et al. 2009

The American Journal of Dermatopathology

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We report a patient with multiple trichoepitheliomas whose biopsy material also demonstrated a range of other neoplasms with follicular differentiation, including small nodular trichoblastoma, small nodular basal cell carcinoma (BCC), and areas resembling infundibulocystic BCC/basaloid follicular hamartoma. These were all intimately associated with otherwise typical trichoepitheliomas that dominated the microscopic appearances. Peripheral blood and tumor tissues of the patient and his 2 daughters, who apparently had a milder phenotype, were studied for alterations in the CYLD and PTCH genes, but mutations or loss of heterozygosity was not found in either gene. The occurrence of multiple follicular neoplasms within a single lesion adds evidence that, although in most cases BCC and trichoblastoma are distinct lesions, the 2 neoplasms do encompass a morphological spectrum of follicular differentiation, which is probably more overtly expressed in syndromic patients.

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Section: Molecular Genetic Findingsmentioning

confidence: 74%

Spectrum of Tumors With Follicular Differentiation in a Patient With the Clinical Phenotype of Multiple Familial Trichoepitheliomas: A Clinicopathological and Molecular Biological Study, Including Analysis of the CYLD and PTCH Genes

Kazakov¹,

Vaněček²,

Němcová³

et al. 2009

The American Journal of Dermatopathology

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“…11,39 Conversely, some cases reported as trichoepitheliomas are in our opinion examples of basaloid follicular hamartomas. 40,41 Finally, some patients with myasthenia gravis seem to have multiple trichoepitheliomas and basaloid follicular hamartomas, 23 supporting the notion that multiple follicular neoplasms and hamartomas may be cutaneous markers of a more complex familial syndrome. Table 1 summarizes the literature review and our interpretation of the reported cases of basaloid follicular hamartoma, multiple trichoepitheliomas associated with alopecia and myasthenia gravis, and infundibulocystic basal carcinoma.…”

Section: Commentmentioning

confidence: 89%

Multiple Hereditary Infundibulocystic Basal Cell Carcinomas

Requena¹,

Fariña²,

Robledo³

et al. 1999

Arch Dermatol

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“…Of these four cases, three showed a positive titer of anti‐nuclear antibody (2, 3, 9) and one showed positive LE cells (anti‐nuclear antibody was not measured in this case) (1). One case of a Japanese woman with generalized HFH had no association with SLE or myasthenia gravis, but she showed positive ANA and rheumatoid arthritis hemagglutination test (10).…”

Section: Discussionmentioning

confidence: 99%