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MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: acne; acne (disease); acne varioliformis; acne vulgaris; Breaking out; frontalis acne
SNOMED CT: Acne (11381005)
HPO: HP:0001061
Monarch Initiative: MONDO:0011438


A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts). [from HPO]

Conditions with this feature

Acrocephalosyndactyly type I
MedGen UID:
Concept ID:
Congenital Abnormality
Apert syndrome is characterized by the presence of multisuture craniosynostosis, midface retrusion, and syndactyly of the hands with fusion of the second through fourth nails. Almost all affected individuals have coronal craniosynostosis, and a majority also have involvement of the sagittal and lambdoid sutures. The midface in Apert syndrome is underdeveloped as well as retruded; a subset of affected individuals have cleft palate. The hand in Apert syndrome always includes fusion of the middle three digits; the thumb and fifth finger are sometimes also involved. Feeding issues, dental abnormalities, hearing loss, hyperhidrosis, and progressive synostosis of multiple bones (skull, hands, feet, carpus, tarsus, and cervical vertebrae) are also common. Multilevel airway obstruction may be present and can be due to narrowing of the nasal passages, tongue-based airway obstruction, and/or tracheal anomalies. Nonprogressive ventriculomegaly is present in a majority of individuals, with a small subset having true hydrocephalus. Most individuals with Apert syndrome have normal intelligence or mild intellectual disability; moderate-to-severe intellectual disability has been reported in some individuals. A minority of affected individuals have structural cardiac abnormalities, true gastrointestinal malformations, and anomalies of the genitourinary tract.
DiGeorge syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Individuals with 22q11.2 deletion syndrome (22q11.2DS) can present with a wide range of features that are highly variable, even within families. The major clinical manifestations of 22q11.2DS include congenital heart disease, particularly conotruncal malformations (ventricular septal defect, tetralogy of Fallot, interrupted aortic arch, and truncus arteriosus), palatal abnormalities (velopharyngeal incompetence, submucosal cleft palate, bifid uvula, and cleft palate), immune deficiency, characteristic facial features, and learning difficulties. Hearing loss can be sensorineural and/or conductive. Laryngotracheoesophageal, gastrointestinal, ophthalmologic, central nervous system, skeletal, and genitourinary anomalies also occur. Psychiatric illness and autoimmune disorders are more common in individuals with 22q11.2DS.
MedGen UID:
Concept ID:
Disease or Syndrome
Aspartylglucosaminuria (AGU) is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive mental retardation. The disorder is caused by deficient activity of the lysosomal enzyme glycosylasparaginase, which results in body fluid and tissue accumulation of a series of glycoasparagines, i.e., glycoconjugates with an aspartylglucosamine moiety at the reducing end. AGU belongs to the group of disorders commonly referred to as the Finnish disease heritage (summary by Mononen et al., 1993 and Arvio and Arvio, 2002).
X-linked lymphoproliferative disease due to XIAP deficiency
MedGen UID:
Concept ID:
Disease or Syndrome
X-linked lymphoproliferative disease (XLP) has two recognizable subtypes, XLP1 and XLP2. XLP1 is characterized predominantly by one of three commonly recognized phenotypes: Inappropriate immune response to Epstein-Barr virus (EBV) infection leading to hemophagocytic lymphohistiocytosis (HLH) or severe mononucleosis. Dysgammaglobulinemia. Lymphoproliferative disease (malignant lymphoma). XLP2 is most often characterized by HLH (often associated with EBV), dysgammaglobulinemia, and inflammatory bowel disease. HLH resulting from EBV infection is associated with an unregulated and exaggerated immune response with widespread proliferation of cytotoxic T cells, EBV-infected B cells, and macrophages. Dysgammaglobulinemia is typically hypogammaglobulinemia of one or more immunoglobulin subclasses. The malignant lymphomas are typically B-cell lymphomas, non-Hodgkin type, often extranodal, and in particular involving the intestine.
Frank-Ter Haar syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
The primary characteristics of the Frank-ter Haar syndrome (FTHS) are brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, full cheeks, small chin, bowing of the long bones, and flexion deformity of the fingers. Protruding, simple ears and prominent coccyx are also regarded as important diagnostic signs (summary by Maas et al., 2004). Borrone syndrome was described as a severe progressive multisystem disorder with features overlapping those of FTHS, including thick skin, acne conglobata, osteolysis, gingival hypertrophy, brachydactyly, camptodactyly, and mitral valve prolapse. Although it was initially thought to be a distinct phenotype, mutations in the FTHS-associated gene SH3PXD2B have been identified in patients diagnosed with Borrone syndrome. The earlier differential description was attributed to phenotypic variability as well as to differences in the ages at which patients were examined (Wilson et al., 2014).
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
A rare pleiotropic auto-inflammatory disorder of childhood, primarily affecting the joints and skin. The first affected family contained ten affected members from three generations and manifested variable expression of a pauciarticular, nonaxial, arthritis that began in childhood; pyoderma gangrenosum; and severe cystic acne in adolescence and beyond. Recurrent sterile arthritis usually occurs after minor trauma, but can also occur spontaneously. PAPA syndrome is a self-limiting disease, but it can lead to severe joint destruction. The gene responsible for the syndrome is the proline-serine-threonine phosphatase interacting protein 1 (PSTPIP1).
Hypertrophic osteoarthropathy, primary, autosomal dominant
MedGen UID:
Concept ID:
Disease or Syndrome
Autosomal dominant primary hypertrophic osteoarthropathy (PHOAD) is characterized by 3 major features: digital clubbing, periostosis, and pachydermia. Patients may also experience joint swelling and pain, and some have reported gastrointestinal symptoms, including watery diarrhea. Males are more commonly affected, and more severely affected, than females (Lee et al., 2016; Xu et al., 2021). Touraine et al. (1935) recognized pachydermoperiostosis (PDP) as a familial disorder with 3 presentations or forms: a complete form with periostosis and pachydermia, an incomplete form without pachydermia, and a forme fruste with pachydermia and minimal skeletal changes. Genetic Heterogeneity Autosomal recessive forms of PHO have been reported (see 259100), including PHOAR2E (614441), which is also caused by mutation in the SLCO2A1 gene. Patients with autosomal recessive PHO do not experience gastrointestinal symptoms.
Mullerian aplasia and hyperandrogenism
MedGen UID:
Concept ID:
Disease or Syndrome
Müllerian aplasia and hyperandrogenism is a condition that affects the reproductive system in females. This condition is caused by abnormal development of the Müllerian ducts, which are structures in the embryo that develop into the uterus, fallopian tubes, cervix, and the upper part of the vagina. Individuals with Müllerian aplasia and hyperandrogenism typically have an underdeveloped or absent uterus and may also have abnormalities of other reproductive organs. Women with this condition have normal female external genitalia, and they develop breasts and pubic hair normally at puberty; however, they do not begin menstruation by age 16 (primary amenorrhea) and will likely never have a menstrual period. Affected women are unable to have children (infertile).\n\nWomen with Müllerian aplasia and hyperandrogenism have higher-than-normal levels of male sex hormones called androgens in their blood (hyperandrogenism), which can cause acne and excessive facial hair (facial hirsutism). Kidney abnormalities may be present in some affected individuals.
Spondyloepimetaphyseal dysplasia, PAPSS2 type
MedGen UID:
Concept ID:
Congenital Abnormality
This form of brachyolmia, here designated brachyolmia type 4, is characterized by short-trunk stature with normal intelligence and facies. The radiographic features include rectangular vertebral bodies with irregular endplates and narrow intervertebral discs, precocious calcification of rib cartilages, short femoral neck, mildly shortened metacarpals, and mild epiphyseal and metaphyseal changes of the tubular bones (summary by Miyake et al., 2012).
Hypertrophic osteoarthropathy, primary, autosomal recessive, 2
MedGen UID:
Concept ID:
Disease or Syndrome
PHOAR2-enteropathy syndrome (PHOAR2E) is characterized by primary hypertrophic osteoarthropathy (PHO) and/or chronic nonspecific ulcers (CNSU) of the small intestine. The cardinal features of PHO are digital clubbing, pachydermia, and periostosis; other manifestations include swelling and pain of the large joints, hyperhidrosis, seborrhea, and acne. CNSU often presents with chronic unexplained anemia and abdominal pain, and patients may exhibit edema due to hypoalbuminemia. Radiologic imaging or endoscopy shows multiple small ulcers, predominantly in the ileum, although the stomach, duodenum, and jejunum are often involved. PHO is more frequent and more severe in male patients, who often also report watery diarrhea, whereas CNSU is more often diagnosed in female patients, who may also show features of PHO such as digital clubbing or arthralgias and swelling of the joints. The same mutations in the SLCO2A1 gene have been reported in patients presenting with either diagnosis, and presumed sex-related modifiers of the manifestations of disease or other genotype/phenotype correlates have yet to be elucidated (Li et al., 2017; Umeno et al., 2018; Hong et al., 2022; Kimball et al., 2024). For a discussion of genetic heterogeneity of PHO, see PHOAR1 (259100).
Cortisone reductase deficiency 1
MedGen UID:
Concept ID:
Disease or Syndrome
Cortisone reductase deficiency (CRD) results from a failure to regenerate the active glucocorticoid cortisol from cortisone via the enzyme 11-beta-hydroxysteroid dehydrogenase (HSD11B1; 600713). The oxoreductase activity of 11-beta-HSD requires the NADPH-regenerating enzyme hexose-6-phosphate dehydrogenase (H6PD; 138090) within the endoplasmic reticulum. Lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in early life with precocious pseudopuberty and females presenting in midlife with hirsutism, oligomenorrhea, and infertility. Biochemically, CRD is diagnosed through the assessment of urinary cortisol and cortisone metabolites and consists of measuring the tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, which in CRD patients is typically less than 0.1 (reference range, 0.7 to 1.2) (summary by Lavery et al., 2008). Genetic Heterogeneity of Cortisone Reductase Deficiency CORTRD2 (614662) is caused by mutation in the HSD11B1 gene (600713) on chromosome 1q32.
Estrogen resistance syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Estrogen resistance (ESTRR) is characterized by absence of puberty with elevated estradiol and gonadotropic hormones, as well as markedly delayed bone maturation. Female patients show absent breast development, small uterus, and enlarged multicystic ovaries; male patients may show small testes (Bernard et al., 2017). Some patients exhibit continued growth into adulthood (Smith et al., 1994).
Pigmented nodular adrenocortical disease, primary, 4
MedGen UID:
Concept ID:
Disease or Syndrome
Cushing syndrome is a clinical designation for the systemic signs and symptoms arising from excess cortisol production. Affected individuals typically show hypertension, impaired glucose tolerance, central obesity, osteoporosis, and sometimes depression. Corticotropin-independent Cushing syndrome results from autonomous cortisol production by the adrenal glands, often associated with adrenocortical tumors. Adrenocortical tumors are most common in adult females (summary by Cao et al., 2014; Sato et al., 2014).

Professional guidelines


Oge' LK, Broussard A, Marshall MD
Am Fam Physician 2019 Oct 15;100(8):475-484. PMID: 31613567
Fox L, Csongradi C, Aucamp M, du Plessis J, Gerber M
Molecules 2016 Aug 13;21(8) doi: 10.3390/molecules21081063. PMID: 27529209Free PMC Article
Zaenglein AL, Pathy AL, Schlosser BJ, Alikhan A, Baldwin HE, Berson DS, Bowe WP, Graber EM, Harper JC, Kang S, Keri JE, Leyden JJ, Reynolds RV, Silverberg NB, Stein Gold LF, Tollefson MM, Weiss JS, Dolan NC, Sagan AA, Stern M, Boyer KM, Bhushan R
J Am Acad Dermatol 2016 May;74(5):945-73.e33. Epub 2016 Feb 17 doi: 10.1016/j.jaad.2015.12.037. PMID: 26897386

Recent clinical studies


Kutlu Ö, Karadağ AS, Wollina U
An Bras Dermatol 2023 Jan-Feb;98(1):75-83. Epub 2022 Oct 14 doi: 10.1016/j.abd.2022.01.006. PMID: 36253244Free PMC Article
Auffret N, Claudel JP, Leccia MT, Ballanger F, Dreno B
Eur J Dermatol 2022 Jul 1;32(4):451-458. doi: 10.1684/ejd.2022.4306. PMID: 36301760
Daszkiewicz M
Rocz Panstw Zakl Hig 2021;72(2):137-143. doi: 10.32394/rpzh.2021.0164. PMID: 34114770
Heng AHS, Chew FT
Sci Rep 2020 Apr 1;10(1):5754. doi: 10.1038/s41598-020-62715-3. PMID: 32238884Free PMC Article
Titus S, Hodge J
Am Fam Physician 2012 Oct 15;86(8):734-40. PMID: 23062156


Mohsin N, Hernandez LE, Martin MR, Does AV, Nouri K
Dermatol Ther 2022 Sep;35(9):e15719. Epub 2022 Jul 26 doi: 10.1111/dth.15719. PMID: 35841269
Conforti C, Giuffrida R, Fadda S, Fai A, Romita P, Zalaudek I, Dianzani C
Dermatol Ther 2021 Jan;34(1):e14436. Epub 2020 Nov 15 doi: 10.1111/dth.14436. PMID: 33084158
Yee BE, Richards P, Sui JY, Marsch AF
Dermatol Ther 2020 Nov;33(6):e14252. Epub 2020 Sep 15 doi: 10.1111/dth.14252. PMID: 32860489
Fox L, Csongradi C, Aucamp M, du Plessis J, Gerber M
Molecules 2016 Aug 13;21(8) doi: 10.3390/molecules21081063. PMID: 27529209Free PMC Article
Titus S, Hodge J
Am Fam Physician 2012 Oct 15;86(8):734-40. PMID: 23062156


Rosmarin D, Passeron T, Pandya AG, Grimes P, Harris JE, Desai SR, Lebwohl M, Ruer-Mulard M, Seneschal J, Wolkerstorfer A, Kornacki D, Sun K, Butler K, Ezzedine K; TRuE-V Study Group
N Engl J Med 2022 Oct 20;387(16):1445-1455. doi: 10.1056/NEJMoa2118828. PMID: 36260792
Shen YC, Chiu WK, Kang YN, Chen C
Aesthetic Plast Surg 2022 Aug;46(4):1913-1922. Epub 2022 Apr 14 doi: 10.1007/s00266-022-02845-3. PMID: 35426044
Sardana K, Sachdeva S
J Cosmet Dermatol 2022 Jan;21(1):85-98. Epub 2021 Sep 26 doi: 10.1111/jocd.14436. PMID: 34564936
Li MK, Liu C, Hsu JTS
Am J Clin Dermatol 2021 Nov;22(6):785-800. Epub 2021 Jul 21 doi: 10.1007/s40257-021-00624-5. PMID: 34287769
Hou A, Cohen B, Haimovic A, Elbuluk N
Dermatol Surg 2017 Mar;43(3):321-339. doi: 10.1097/DSS.0000000000000924. PMID: 27755171


Sadeghzadeh-Bazargan A, Ghassemi M, Goodarzi A, Roohaninasab M, Najar Nobari N, Behrangi E
Dermatol Ther 2021 Jan;34(1):e14438. Epub 2020 Dec 6 doi: 10.1111/dth.14438. PMID: 33085149
Sevimli Dikicier B
J Int Med Res 2019 Jul;47(7):2987-2992. Epub 2019 May 24 doi: 10.1177/0300060519847367. PMID: 31122106Free PMC Article
Gebauer K
Aust Fam Physician 2017 Dec;46(12):892-895. PMID: 29464224
Zaenglein AL, Pathy AL, Schlosser BJ, Alikhan A, Baldwin HE, Berson DS, Bowe WP, Graber EM, Harper JC, Kang S, Keri JE, Leyden JJ, Reynolds RV, Silverberg NB, Stein Gold LF, Tollefson MM, Weiss JS, Dolan NC, Sagan AA, Stern M, Boyer KM, Bhushan R
J Am Acad Dermatol 2016 May;74(5):945-73.e33. Epub 2016 Feb 17 doi: 10.1016/j.jaad.2015.12.037. PMID: 26897386
Pezza M, Carlomagno V, Casucci G
G Ital Dermatol Venereol 2015 Dec;150(6):649-53. Epub 2014 Jul 31 PMID: 25077885

Clinical prediction guides

Guertler A, Volsky A, Eijkenboom Q, Fiedler T, French LE, Reinholz M
Nutrients 2023 Oct 17;15(20) doi: 10.3390/nu15204405. PMID: 37892480Free PMC Article
Santer M, Lawrence M, Renz S, Eminton Z, Stuart B, Sach TH, Pyne S, Ridd MJ, Francis N, Soulsby I, Thomas K, Permyakova N, Little P, Muller I, Nuttall J, Griffiths G, Thomas KS, Layton AM; SAFA trial investigators
BMJ 2023 May 16;381:e074349. doi: 10.1136/bmj-2022-074349. PMID: 37192767Free PMC Article
Aktaş Karabay E, Aksu Çerman A
An Bras Dermatol 2020 Mar-Apr;95(2):187-193. Epub 2020 Feb 12 doi: 10.1016/j.abd.2019.08.023. PMID: 32113677Free PMC Article
Zouboulis CC, Tzellos T, Kyrgidis A, Jemec GBE, Bechara FG, Giamarellos-Bourboulis EJ, Ingram JR, Kanni T, Karagiannidis I, Martorell A, Matusiak Ł, Pinter A, Prens EP, Presser D, Schneider-Burrus S, von Stebut E, Szepietowski JC, van der Zee HH, Wilden SM, Sabat R; European Hidradenitis Suppurativa Foundation Investigator Group
Br J Dermatol 2017 Nov;177(5):1401-1409. Epub 2017 Oct 30 doi: 10.1111/bjd.15748. PMID: 28636793
Huang YC, Cheng YC
J Am Acad Dermatol 2017 Jun;76(6):1068-1076.e9. Epub 2017 Mar 11 doi: 10.1016/j.jaad.2016.12.028. PMID: 28291553

Recent systematic reviews

Reynolds RV, Yeung H, Cheng CE, Cook-Bolden F, Desai SR, Druby KM, Freeman EE, Keri JE, Stein Gold LF, Tan JKL, Tollefson MM, Weiss JS, Wu PA, Zaenglein AL, Han JM, Barbieri JS
J Am Acad Dermatol 2024 May;90(5):1006.e1-1006.e30. Epub 2024 Jan 30 doi: 10.1016/j.jaad.2023.12.017. PMID: 38300170
Mavranezouli I, Daly CH, Welton NJ, Deshpande S, Berg L, Bromham N, Arnold S, Phillippo DM, Wilcock J, Xu J, Ravenscroft JC, Wood D, Rafiq M, Fou L, Dworzynski K, Healy E
Br J Dermatol 2022 Nov;187(5):639-649. Epub 2022 Aug 22 doi: 10.1111/bjd.21739. PMID: 35789996Free PMC Article
Vasconcelos QDJS, Bachur TPR, Aragão GF
Appl Physiol Nutr Metab 2021 Jan;46(1):27-33. Epub 2020 Jul 23 doi: 10.1139/apnm-2020-0370. PMID: 32702243
Heng AHS, Chew FT
Sci Rep 2020 Apr 1;10(1):5754. doi: 10.1038/s41598-020-62715-3. PMID: 32238884Free PMC Article
Fiedler F, Stangl GI, Fiedler E, Taube KM
Acta Derm Venereol 2017 Jan 4;97(1):7-9. doi: 10.2340/00015555-2450. PMID: 27136757

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