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Segmentally arranged basaloid follicular hamartomas with osseous, dental and cerebral anomalies: a distinct syndrome.
Acta Derm Venereol. 2008; 88(4):382-7.AD

Abstract

A 39-year-old man presented with multiple basaloid follicular hamartomas involving the right side of his body in a systematized pattern following Blaschko's lines. His right leg was 22.5 cm shorter than the left, and rudimentary pre-axial polydactyly was noted on the left hand and the right foot. The teeth of the right maxilla were hypoplastic. DNA analysis of blood lymphocytes and fibroblasts from lesional skin did not reveal any mutation in the Patched gene. On account of this case and of 8 similar cases found in th e literature, the spectrum of a distinct syndrome is delineated. Ipsilateral extracutaneous defects include cervical ribs, polydactyly, malformed thumb and disproportionate overgrowth or deficient growth of limb bones; dental anomalies in the form of anodontia, hypodontia or ameloblastoma; and cerebral defects such as mental retardation, unsteady gait, meningioma and optic glioma. The cutaneous lesions of this syndrome should not be called "basal cell naevus" as this will lead to continuing confusion with Gorlin syndrome. The molecular basis of the disorder remains to be elucidated.

Authors+Show Affiliations

Department of Dermatology, Philipp University of Marburg, Marburg, Germany. happle@med.uni-marburg.deNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

18709310

Citation

Happle, Rudolf, and Sigrid Tinschert. "Segmentally Arranged Basaloid Follicular Hamartomas With Osseous, Dental and Cerebral Anomalies: a Distinct Syndrome." Acta Dermato-venereologica, vol. 88, no. 4, 2008, pp. 382-7.
Happle R, Tinschert S. Segmentally arranged basaloid follicular hamartomas with osseous, dental and cerebral anomalies: a distinct syndrome. Acta Derm Venereol. 2008;88(4):382-7.
Happle, R., & Tinschert, S. (2008). Segmentally arranged basaloid follicular hamartomas with osseous, dental and cerebral anomalies: a distinct syndrome. Acta Dermato-venereologica, 88(4), 382-7. https://doi.org/10.2340/00015555-0495
Happle R, Tinschert S. Segmentally Arranged Basaloid Follicular Hamartomas With Osseous, Dental and Cerebral Anomalies: a Distinct Syndrome. Acta Derm Venereol. 2008;88(4):382-7. PubMed PMID: 18709310.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Segmentally arranged basaloid follicular hamartomas with osseous, dental and cerebral anomalies: a distinct syndrome. AU - Happle,Rudolf, AU - Tinschert,Sigrid, PY - 2008/8/19/pubmed PY - 2008/11/15/medline PY - 2008/8/19/entrez SP - 382 EP - 7 JF - Acta dermato-venereologica JO - Acta Derm. Venereol. VL - 88 IS - 4 N2 - A 39-year-old man presented with multiple basaloid follicular hamartomas involving the right side of his body in a systematized pattern following Blaschko's lines. His right leg was 22.5 cm shorter than the left, and rudimentary pre-axial polydactyly was noted on the left hand and the right foot. The teeth of the right maxilla were hypoplastic. DNA analysis of blood lymphocytes and fibroblasts from lesional skin did not reveal any mutation in the Patched gene. On account of this case and of 8 similar cases found in th e literature, the spectrum of a distinct syndrome is delineated. Ipsilateral extracutaneous defects include cervical ribs, polydactyly, malformed thumb and disproportionate overgrowth or deficient growth of limb bones; dental anomalies in the form of anodontia, hypodontia or ameloblastoma; and cerebral defects such as mental retardation, unsteady gait, meningioma and optic glioma. The cutaneous lesions of this syndrome should not be called "basal cell naevus" as this will lead to continuing confusion with Gorlin syndrome. The molecular basis of the disorder remains to be elucidated. SN - 0001-5555 UR - https://www.unboundmedicine.com/medline/citation/18709310/Segmentally_arranged_basaloid_follicular_hamartomas_with_osseous_dental_and_cerebral_anomalies:_a_distinct_syndrome_ L2 - https://www.medicaljournals.se/acta/content/abstract/10.2340/00015555-0495 DB - PRIME DP - Unbound Medicine ER -