Living with Generalized basaloid follicular hamartoma syndrome
A rare genetic skin condition with many tiny bumps on the face, neck, and upper body, and sparse hair.
Understanding Generalized basaloid follicular hamartoma syndrome
People have many small, skin-colored or darker bumps (1 to 2 mm) that look like milia or blackheads. They also have thin hair and small pits on the palms and soles. The bumps are usually first seen on the cheeks or neck and slowly grow in size and number to reach the scalp, face, ears, shoulders, chest, armpits, and upper arms. Mild reduced sweating has been reported.
Signs & symptoms
GARD lists these among the main features:
- Many tiny skin-colored or darker bumps
- Bumps that look like milia or blackheads
- Thin or sparse hair (hypotrichosis)
- Small pits on the palms and soles
- Mildly reduced sweating (hypohidrosis)
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 cancer specialists, genetic specialists and skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Cancer specialists (oncologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 Children's Skin Disease Foundation
- 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 genes cause this condition, and it is inherited in an autosomal dominant way, which means one changed copy of a gene can be enough. GARD does not name the gene.
Also known as: basaloid follicular hamartoma syndrome, generalized, autosomal dominant
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Generalized basaloid follicular hamartoma syndrome.
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