Related Experiment Video
Updated: May 25, 2026
CUBIC Protocol Visualizes Protein Expression at Single Cell Resolution in Whole Mount Skin Preparations
Published on: August 4, 2016
Multiple pilomatricomas in Kabuki syndrome
Atsumori Hamahata1, Wataru Kamei, Masashi Ishikawa
1Department of Plastic and Reconstructive Surgery, Tokyo Women's Medical University, Tokyo. a.hamahata@prs.twmu.ac.jp
Abstract:
Pilomatricoma is a benign tumor of the hair matrix cell that presents predominantly in childhood. Although pilomatricoma occurs spontaneously, multiple pilomatricomas have been described in association with several inherited syndromes. We report on a 28-year-old man with Kabuki syndrome with three pilomatricomas in his head and thigh. Although several reports describe multiple pilomatricomas associated with Turner syndrome, there are no reports of multiple pilomatricomas combined with Kabuki syndrome. Ectodermal abnormalities such as hair abnormality and hirsutism are symptoms of Kabuki syndrome, and pilomatricomas are frequently associated with the mutations of beta-catenin in hair follicle development. The predisposition of pilomatricomas may be not merely a coincidental finding, but an added association with Kabuki syndrome.
Insights
This study reports a rare case of multiple pilomatricomas in a 28-year-old man with Kabuki syndrome. This finding suggests a potential association between Kabuki syndrome and pilomatricoma development.
Area of Science:
- Dermatology
- Genetics
- Pediatric Oncology
Background:
- Pilomatricoma is a benign hair matrix tumor, typically seen in children.
- Multiple pilomatricomas are occasionally linked to inherited syndromes.
- Kabuki syndrome is a genetic disorder characterized by ectodermal abnormalities.
Observation:
- A 28-year-old male diagnosed with Kabuki syndrome presented with three pilomatricomas.
- The pilomatricomas were located on the head and thigh.
- No prior reports documented multiple pilomatricomas in conjunction with Kabuki syndrome.
Findings:
- The case highlights a potential association between Kabuki syndrome and multiple pilomatricomas.
- Pilomatricomas are linked to beta-catenin mutations involved in hair follicle development.
- Kabuki syndrome involves ectodermal abnormalities, including hair issues.
Implications:
- This association may extend beyond coincidence, suggesting a predisposition.
- Further research is warranted to explore the genetic link between Kabuki syndrome and pilomatricoma.
- This finding could inform clinical surveillance for patients with Kabuki syndrome.
More Related Videos
Related Concept Videos
01:09Cytoskeletal Linker Proteins - Plakins
01:33Pleiotropy
01:11Papillary Dermis
The dermis might be considered the "core" of the integumentary system, as distinct from the epidermis and hypodermis. It contains blood and lymph vessels, nerves, and other structures, such as hair follicles and sweat glands. The dermis is made of two layers of connective tissue that comprise an interconnected mesh of elastin and collagenous fibers, produced by fibroblasts.
Papillary Layer
The papillary layer is made of loose, areolar connective tissue, which means the collagen and...
01:30Skin Cancer
Basal Cell Carcinoma (BCC): BCC is the most common type of skin cancer, accounting for about 80% of cases. It typically develops in...
01:20The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...