Acne inversa, familial, 3(ACNINV3)

MedGen UID:: 462388
•Concept ID:: C3151038
•: Disease or Syndrome

Synonym:	ACNINV3

Gene (location): Gene(s) directly associated with this condition or phenotype.	PSEN1 (14q24.2)

Monarch Initiative:	MONDO:0013398
OMIM®:	613737

Definition

Acne inversa, also known as hidradenitis suppurativa, is a chronic inflammatory disease of the hair follicles whose characteristic features include draining sinuses, painful skin abscesses, and disfiguring scars. Manifestations typically appear after puberty. Familial acne inversa is genetically heterogeneous (summary by Wang et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of familial acne inversa, see 142690. [from OMIM]

Clinical features

From HPO

Acne inversa

MedGen UID:: 57993
•Concept ID:: C0162836
•: Disease or Syndrome

A chronic skin condition involving the inflammation of the apocrine sweat glands, forming pimple-like bumps known as abscesses.

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Perifolliculitis

MedGen UID:: 537539
•Concept ID:: C0263006
•: Disease or Syndrome

Inflammation surrounding hair follicles.

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Recurrent cutaneous abscess formation

MedGen UID:: 867572
•Concept ID:: C4021957
•: Finding

An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses.

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Chronic furunculosis

MedGen UID:: 869103
•Concept ID:: C4023521
•: Disease or Syndrome

A furuncle (boil) is a skin infection involving an entire hair follicle and nearby skin tissue. Chronic furunculosis refers to recurrent episodes of furuncles, often caused by recurrent staphylococcus infection.

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