OBSOLETE: Follicular hamartoma-alopecia-cystic fibrosis syndrome

Follicular hamartoma-alopecia-cystic fibrosis syndrome is an extremely rare condition that has been described in medical literature but is now considered an obsolete diagnostic term (Orphanet code 2112). This means that the medical community no longer recognizes it as a distinct syndrome, and affected individuals may now be classified under other related conditions. The syndrome was originally described as a combination of follicular hamartomas (non-cancerous growths involving hair follicles in the skin), alopecia (hair loss), and features overlapping with cystic fibrosis (a condition that causes thick, sticky mucus to build up in the lungs and digestive system). Because this diagnosis is obsolete, patients who were previously given this label may benefit from being re-evaluated by a clinical geneticist using modern genetic testing. The original reports suggested skin abnormalities such as small bumps or growths on the skin related to hair follicles, patchy or widespread hair loss, and respiratory or digestive problems similar to those seen in cystic fibrosis. Treatment would have been directed at managing each individual symptom — for example, lung therapies for breathing problems, nutritional support for digestive issues, and dermatological care for skin findings. Because so few cases have been reported and the condition is no longer considered a separate entity, there is very limited information about its natural history, genetic cause, or long-term outlook. Patients and families are encouraged to seek updated genetic evaluation to determine whether a more current diagnosis applies.

Bring these to your next appointment

• Q1.Is this diagnosis still considered valid, or should we pursue updated genetic testing?,Could my symptoms be explained by cystic fibrosis or another currently recognized condition?,What genetic tests would you recommend to clarify the diagnosis?,Are there any clinical trials or research studies that might be relevant?,What specialists should be part of my care team?,How should we manage the skin and hair symptoms?,What should I watch for that would require emergency medical attention?

Common questions about OBSOLETE: Follicular hamartoma-alopecia-cystic fibrosis syndrome

Related conditions

Other rare diseases commonly researched alongside OBSOLETE: Follicular hamartoma-alopecia-cystic fibrosis syndrome.

• Alopecia universalis→
• Cystic fibrosis→