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Hereditary benign telangiectasia: first case in Iran
Zari Javidi1, M Maleki, V Mashayekhi
1Medical University of Mashhad, Iran. zari_javidi@yahoo.com
Insights
This study describes hereditary benign telangiectasia, a rare genetic disorder characterized by widespread telangiectasias on sun-exposed skin. The condition shows autosomal dominant inheritance with no systemic involvement.
Area of Science:
- Dermatology
- Medical Genetics
Background:
- Hereditary benign telangiectasia is a rare genetic disorder.
- It is characterized by widespread cutaneous telangiectasias.
Observation:
- A 14-year-old boy presented with numerous cutaneous telangiectasias on light-exposed areas.
- The condition affected six family members across three generations.
- No mucosal bleeding or organ involvement was observed.
Findings:
- The family history and clinical presentation suggest autosomal dominant inheritance.
- Generalized telangiectasia predominantly on light-exposed skin was noted.
- Absence of systemic or mucosal involvement and bleeding disorders was confirmed.
Implications:
- This case highlights the clinical features and inheritance pattern of hereditary benign telangiectasia.
- Early diagnosis and genetic counseling are important for affected families.
- Further research may elucidate the specific genetic mutations involved.
Abstract:
A 14-year-old boy was referred to the Dermatology Clinic of the Medical University of Mashhad, Iran, with numerous cutaneous telangiectasias on the face, ears, lips, and back of the hands, with lesions in the temporal region being the first to appear (Figs 1-3). His mother stated that the lesions had been present for 10 years with an increase in the past 6 months. He had no history of bleeding from the nose, mouth, gastrointestinal tract, and other mucosal surfaces, and there was no sign of organ involvement. On inspection, no lesions were detected on the nasal mucosa, external ear, over the tympanic membrane, or mouth. The patient is one member of a family of six. His mother is healthy, but similar lesions were seen in his father, sister and one of his brothers with similar distributions. Lesions were also seen in his aunt and paternal grandmother, showing disease distribution in six members of this family from three generations. The oldest brother is 20 years of age and mentioned the onset of disease from the age of 10 years. The sister is 18 years of age and lesions started to appear 7 years ago; she claims that the lesions regress during her menstrual period. The youngest brother is 4 years of age and shows no sign of cutaneous lesions as yet. The parents are not consanguineous. Generalized telangiectasia with a predominant distribution on light-exposed skin, an autosomal dominant inheritance, and no sign of systemic or mucosal involvement and bleeding disorders indicates a diagnosis of hereditary benign telangiectasia. Our patient did not consent to biopsy.
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