FLOTCH syndrome

FLOTCH syndrome is a rare cutaneous disorder characterized by total leukonychia and the recurrent development of pilar cysts. Some individuals may also exhibit ocular abnormalities including inflammatory changes, abnormal eyelid and eyelash morphology, and photophobia, while skin neoplasms and nail abnormalities are frequently observed. In addition, there have been reports of renal calculi among affected individuals. This very rare condition affects fewer than one in a million people, and its exact genetic basis remains under investigation.

The clinical presentation of FLOTCH syndrome prominently features abnormal nail morphology, leading to a white discoloration of the nails (leukonychia), along with multiple recurrent pilar cysts. Ocular features are common, with many individuals experiencing inflammatory abnormalities of the eye, abnormal eyelid and eyelash morphology, photophobia, and sparse eyelashes. Skin neoplasms are frequently reported, and a subset of patients may also develop blepharitis and nephrolithiasis. Not all individuals experience every feature, and severity varies considerably.

The precise genetic basis of FLOTCH syndrome is still under investigation, and no specific genes have been definitively linked to the condition at this time. With inheritance details not yet established, it is thought that a combination of genetic and potentially environmental factors may contribute to its development. Families with concerns about an inherited condition may consider genetic counseling for additional guidance.

Currently, management focuses on supportive care and symptom management rather than any disease-specific treatments. Treatment is tailored to the individual and typically involves a multidisciplinary team that addresses skin, ocular, and other systemic concerns as they arise. Regular surveillance is an essential part of long-term care, helping to detect complications early, and patients are encouraged to discuss treatment options with their healthcare team alongside the potential benefits of genetic counseling.

Outcomes for individuals with FLOTCH syndrome are variable, with some patients experiencing a relatively stable course while others may require ongoing management of skin and ocular issues or complications such as renal calculi. With improvements in supportive care over recent decades, many individuals maintain a good quality of life. Outcomes described in medical literature continue to evolve as standards of care improve, and families often find it helpful to connect with specialists familiar with this condition and seek genetic counseling for additional guidance.