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Condition report · Dermatological

Familial Hidradenitis Suppurativa

Rare inherited forms of hidradenitis suppurativa, a condition causing painful lumps and abscesses in the armpits, groin and other skin folds. Most hidradenitis suppurativa is not caused by a single gene; this report covers the familial forms linked to the gamma-secretase genes.

A condition report looks for rare variants known to cause the conditions it covers.

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The condition we analyse

Familial hidradenitis suppurativa

Autosomal dominant

Hidradenitis suppurativa caused by variants in the gamma-secretase genes NCSTN, PSENEN or PSEN1, often with earlier onset and more extensive disease.

What a diagnosis changes

Earlier diagnosis supports earlier treatment, weight management and smoking cessation.

Genes analysed

Also known as

ACNINV; hereditary hidradenitis suppurativa

Includes 3 related subtypes ↓
  • acne inversa, familial, 1
  • acne inversa, familial, 2
  • acne inversa, familial, 3
MONDO:0024516MedGen 326766

Limitations

  • Variants in PSEN1 are also linked to early-onset Alzheimer's disease, which is interpreted separately; a hidradenitis-related PSEN1 result does not by itself indicate Alzheimer's risk.

Other dermatological conditions

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