Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Familial acne inversa 1

Familial acne inversa 1 is an autosomal dominant skin disease that is caused by mutations of the NCSTN gene. The relapsing inflammatory lesions develop in skin folds with terminal hair and apocrine glands. They heal with scarring.

Systematic

Hereditary dermatological disorders
Autoinflammation with arthritis and dyskeratosis
Chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome
Dyschromatosis symmetrica hereditaria
Ectodermal dysplasia and immunodeficiency
Epidermolysis bullosa
Familial acne inversa 1
NCSTN
Griscelli syndrome type 2
Hermansky-Pudlak syndrome 2
Incontinentia pigmenti
Infantile-onset periodic fever-panniculitis-dermatosis syndrome
Interleukin 36 receptor antagonist deficiency
Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Neonatal inflammatory skin and bowel disease type 1
Nephropathy with pretibial epidermolysis bullosa and deafness
Piebaldism
Psoriasis
Pyoderma gangrenosum, acne, and hidradenitis suppurativa (PASH)
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
Susceptibility to vitiligo-associated multiple autoimmune disease 1

References:

1.

Wang B et. al. (2010) Gamma-secretase gene mutations in familial acne inversa.

external link
2.

Pink AE et. al. (2011) PSENEN and NCSTN mutations in familial hidradenitis suppurativa (Acne Inversa).

external link
3.

Fitzsimmons JS et al. (1985) A family study of hidradenitis suppurativa.

external link
4.

Fitzsimmons JS et al. (1985) Evidence of genetic factors in hidradenitis suppurativa.

external link
5.

Knaysi GA et al. (1968) Hidradenitis suppurativa.

external link
6.

Fitzsimmons JS et al. (1984) Familial hidradenitis suppurativa: evidence in favour of single gene transmission.

external link
7.

Von Der Werth JM et al. (2000) The clinical genetics of hidradenitis suppurativa revisited.

external link
8.

Lapins J et al. (2001) Incidence of cancer among patients with hidradenitis suppurativa.

external link
9.

Jansen I et al. (2001) Acne inversa (alias hidradenitis suppurativa).

external link
10.

Gao M et al. (2006) Inversa acne (hidradenitis suppurativa): a case report and identification of the locus at chromosome 1p21.1-1q25.3.

external link
Update: Aug. 14, 2020
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits