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Celiac disease, phylloid hypomelanosis and autoimmune thyroiditis: a case report
Mahya Sultan Tosun1, Vildan Ertekin
1Pediatric Gastroenterology Unit, Denizli State Hospital, Denizli, Turkey. mahyasultan@hotmail.com.
Phylloid hypomelanosis, a rare pigmentary pattern, was diagnosed in a teen with chronic diarrhea. This case highlights the link between rare genetic conditions, autoimmune disorders, and skin manifestations.
Area of Science:
- Genetics
- Dermatology
- Immunology
Background:
- Pigmentary mosaicism describes diverse skin pigmentation patterns.
- Phylloid hypomelanosis is a rare presentation within pigmentary mosaicism.
- Autoimmune disorders can manifest with neurocutaneous signs.
Observation:
- A 15-year-old female presented with chronic diarrhea and abdominal pain.
- Physical examination revealed multiple hypopigmented skin patches.
- The patient exhibited symptoms suggestive of gastrointestinal and autoimmune issues.
Findings:
- The patient was diagnosed with phylloid hypomelanosis.
- Genetic analysis revealed partial trisomy 13.
- Co-occurring conditions included celiac disease and autoimmune thyroiditis.
Implications:
- This case underscores the association between genetic abnormalities, autoimmune diseases, and dermatological findings.
- It highlights the importance of considering systemic conditions in patients with rare pigmentary disorders.
- Further research into phylloid hypomelanosis and its associated conditions is warranted.
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