Happle-Tinschert syndrome: Segmentally arranged basaloid follicular hamartomas, linear atrophoderma with hypo- and hyperpigmentation, enamel defects, ipsilateral hypertrichosis, and skeletal and cerebral anomalies

Dermatology

Volumn 218, Issue 3, 2009, Pages 221-225

  Itin, Peter H ^a  

^a UNIVERSITY HOSPITAL BASEL   (Switzerland)

Author keywords

Atrophoderma; Basaloid follicular hamartoma; Bone defects; Brain lesions; Comedones; Dental malformations; Happle Tinschert syndrome; Hypertrichosis; Mosaicism; Syndactyly

Indexed keywords

DNA;

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; DISEASE ASSOCIATION; DNA DETERMINATION; HAMARTOMA; HAPPLE TINSCHERT SYNDROME; HUMAN; HUMAN TISSUE; HYPERPIGMENTATION; HYPERTRICHOSIS; HYPOPIGMENTATION; MALE; MEDULLOBLASTOMA; MOSAICISM; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SYNDACTYLY; XERODERMA PIGMENTOSUM;

ABNORMALITIES, MULTIPLE; ADOLESCENT; BONE AND BONES; BRAIN NEOPLASMS; HAMARTOMA; HUMANS; MALE; MEDULLOBLASTOMA; PIGMENTATION DISORDERS; SKIN DISEASES; SYNDROME; TOOTH ABNORMALITIES;

EID: 62049086129     PISSN: 10188665     EISSN: None     Source Type: Journal    
DOI: 10.1159/000174103     Document Type: Article

References (21)

1. Brownstein MH: Basaloid follicular hamartoma: solitary and multiple types. J Am Acad Dermatol 1992;27:237-240.
2. Mehregan AH, Barker S: Basaloid follicular hamartoma: three cases with localized and systematized unilateral lesions. J Cut Pathol 1985;12:55-65.
3. Delacrétaz J, Balsiger F: Hamartome folliculaire multiple familial. Dermatologica 1979;159:316-324.
4. Wheeler CE Jr, Carroll MA, Groben PA, Briggaman RA, Prose NS, Davis DA: Autosomal dominantly inherited generalized basaloid follicular hamartoma syndrome: report of a new disease in a North Carolina family. J Am Acad Dermatol 2000;43:189-206.
5. Harman M, Inalöz HS, Akdeniz S, Inalöz SS, Aslan A: Congenital non-familial unilateral basaloid follicular hamartoma. J Eur Acad Dermatol Venereol 1999;13:210-213.
6. Ridley CM, Smith N: Generalized hair follicle hamartoma associated with alopecia and myasthenia gravis: report of a second case. Clin Exp Dermatol 1981;6:283-289.
7. Happle R, Tinschert S: Segmentally arranged basaloid follicular hamartomas with osseous, dental and cerebral anomalies: a distinct syndrome. Acta Derm Venereol 2008;88:382-387.
8. Gorlin RJ, Vickers RA, Kelln E, Williamson JJ: The multiple basal cell nevi syndrome: an analysis of a syndrome consisting of multiple nevoid basal-cell carcinoma, jaw cysts, skeletal anomalies, medulloblastoma, and hyporesponsiveness to parathormone. Cancer 1965;18:89-104.
9. Itin P, Hüssy R: Linear unilateral basaloid follicular hamartoma associated with medulloblastoma (abstract). Dermatology 1996;193:167.
10. Burck U, Held KR: Unilateral skin lesions, cataracts, optic glioma and retardation - a variant of the epidermal nevus syndrome? Dermatologica 1982;165:208-214.
11. Aloi FG, Tomasini CF, Isaia G, Grazia Bernengo M: Unilateral linear basal cell nevus associated with diffuse osteoma cutis, unilateral anodontia, and abnormal bone mineralization. J Am Acad Dermatol 1989;20:973-978.
12. Burck U, Arnold H, Siebert J: Unilateral lesions associated with multiple neoplasms. Dermatologica 1984;168:78-81.
13. Kraus Z, Vortel V: Tardive unilateral basal cell naevus with comedones (in Czech). Sborn Ved Praci Lek Fak Karlovy Univ Hradec Kralove 1960;3:58-65.
14. Lausecker H: Beitrag zu den Naevo-Epitheliomen. Arch Dermatol Syph (Berlin) 1952;194:639-662.
15. Zarour H, Grob JJ, Choux R, Collet-Vilette AM, Bonerandi JJ: Basal cell and linear unilateral adnexal hamartoma (or linear unilateral basal-cell nevus) (in French). Ann Dermatol Venereol 1992;119:901-903.
16. Carney RG: Linear unilateral basal-cell nevus with comedones: report of a case. Arch Dermatol Syph 1952;65:471-476.
17. Bleiberg J, Brodkin RH: Linear unilateral basal cell nevus with comedones. Arch Dermatol 1969;100:187-190.
18. Alpsoy E, Durusoy C, Ozbilim G, Karpuzoglu G, Yilmaz E: Nevus comedonicus syndrome: a case associated with multiple basal cell carcinomas and a rudimentary toe. Int J Dermatol 2005;44:499-501.
19. Gorlin RJ, Cohen MM Jr, Hennekam RCM: Syndromes of the Head and Neck, ed 4. Oxford, Oxford University Press, 2001, pp 444-453.
20. Gorlin RJ, Yunis JJ, Tuna N: Multiple nevoid basal cell carcinoma, odontogenic keratocysts and skeletal anomalies: a syndrome. Acta Derm Venereol 1963;43:39-55.
21. Gorlin RJ, Sedano HO: The multiple nevoid basal cell carcinoma syndrome revisited. Birth Defects Orig Artic Ser 1971;7:140-148.