Living with H syndrome
Part of a group of related conditions (SLC29A3 spectrum) with dark, hairy skin patches and many other body features.
Understanding H syndrome
The group includes H syndrome, pigmented hypertrichosis with insulin-dependent diabetes (PHID), Faisalabad histiocytosis, and familial Rosai-Dorfman disease. A shared feature is histiocytosis, an overgrowth of immune cells called histiocytes. In H syndrome, skin patches, typically on the lower body, are unusually dark and hairy. Other features include an enlarged liver, hearing loss, and short stature. The pattern varies even within a family. It usually starts in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Dark, hairy skin patches
- Enlarged liver and spleen
- Hearing loss
- Short stature
- Delayed puberty
- Fingers or toes fixed in a bent position (camptodactyly)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include ear, nose, and throat specialists, genetic specialists, hormone specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in SLC29A3 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Histiocytosis Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: Histiocytosis Association
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Histiocytosis Association and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the SLC29A3 gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: asrar facharzt haque syndrome; faisalabad histiocytosis; histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures, and/or deafness; histiocytosis with joint contractures and sensorineural deafness; histiocytosis-lymphadenopathy plus syndrome; hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss
Patient organizations
- Histiocytosis AssociationH syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with H syndrome.
Explore research for H syndrome
Explore actively recruiting H syndrome studies with HealthSpark.
Find actively recruiting studies for H syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting H syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for H syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your H syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.