Acne Syndromes and Mosaicism

November 2021 in “ Biomedicines ”

Sumer Baroud, Jim Wu, Christos C. Zouboulis

TLDR Understanding how acne develops in different diseases could lead to new treatments.

The document discusses the concept of abnormal mosaicism and its role in acne, a chronic illness characterized by inflammatory changes in the pilosebaceous units. It highlights several disorders associated with acne, including congenital adrenal hyperplasia, polycystic ovarian syndrome, and seborrhoea-acne-hirsutism-androgenetic alopecia syndrome. The document also discusses acne syndromes and acneiform mosaicism, with mosaic germline mutations in the FGFR2 gene being associated with Apert syndrome and nevus comedonicus. The role of FGF7 and FGF10, ligands for FGFR2b, in promoting hyperkeratinization and fatty-acid synthesis in sebocytes, which can lead to acne, is also discussed. The document also highlights various systemic endocrine/immunological disorders and syndromes, such as congenital adrenal hyperplasia (CAH), PCOS, and seborrhea-acne-hirsutism-androgenetic alopecia (SAHA) syndrome, which have been associated with acne. The document also discusses the role of acne as a skin manifestation in various diseases and syndromes, including endocrine/immunological syndromes, autoinflammatory syndromes, and certain mosaicisms. It concludes that studying the common mechanisms of acne induction in these diseases and syndromes might contribute to the development of novel therapeutic regimens.

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Research cited in this study

17 / 17 results

research Beyond Acne: Current Aspects of Sebaceous Gland Biology and Function

97 citations, September 2016 in “Reviews in Endocrine and Metabolic Disorders”

The sebaceous gland has more roles than just producing sebum and contributing to acne, and new research could lead to better skin disease treatments.

research Acne Tarda and Male-Pattern Baldness Unmasking Primary Ovarian Insufficiency: A Case and Review

4 citations, January 2014 in “Dermatology”

A woman with acne and baldness was found to have a rare ovarian condition but successfully had a child through fertility treatment.

research Acne as a Chronic Systemic Disease

71 citations, November 2013 in “Clinics in Dermatology”

Acne is a chronic disease linked to various systemic conditions and has significant psychological and social effects.

research Emerging Concepts About Prenatal Genesis, Aberrant Metabolism, and Treatment Paradigms in Polycystic Ovary Syndrome

25 citations, June 2012 in “Endocrine”

PCOS may start before birth, involves metabolic issues, and can be treated with drugs like metformin and lifestyle changes.

research Pathways to Inflammation: Acne Pathophysiology

68 citations, May 2011 in “European Journal of Dermatology”

Acne is caused by genetics, diet, hormones, and bacteria, with treatments not yet curative.

research Acne-Associated Syndromes: Models for Better Understanding of Acne Pathogenesis

99 citations, December 2010 in “Journal of The European Academy of Dermatology and Venereology”

The document concludes that certain genetic mutations and dietary factors are involved in acne development, and treatments like isotretinoin and diet changes can help manage it.

research Polycystic Ovary Syndrome and Acne

10 citations, November 2010 in “Skin therapy letter”

Women with PCOS often have acne because of high androgen levels, and the article reviewed how to treat this type of acne.

research Anti-Androgen Treatments for Hirsutism and Acne in Women of Childbearing Age

24 citations, January 2010 in “Annales d'endocrinologie”

For women with moderate to severe unwanted hair growth or acne, birth control pills are the first choice, with other medications like cyproterone, spironolactone, flutamide, or finasteride as alternatives, and permanent hair removal should be done with electrolysis or laser.

research New Developments in Our Understanding of Acne Pathogenesis and Treatment

466 citations, June 2009 in “Experimental dermatology”

We now understand more about what causes acne and this could lead to better, more personalized treatments.

research Role of FGFR2-Signaling in the Pathogenesis of Acne

63 citations, May 2009 in “Dermato-endocrinology”

Increased FGFR2b signaling, influenced by androgens, plays a role in causing acne.

research Anti-Acne Agents Attenuate FGFR2 Signal Transduction in Acne

65 citations, February 2009 in “The journal of investigative dermatology/Journal of investigative dermatology”

Anti-acne medications may work by reducing the activity of a protein involved in acne development.

research Androgen Action on Human Skin – From Basic Research to Clinical Significance

147 citations, October 2004 in “Experimental dermatology”

Hormones like testosterone affect skin functions and can cause skin issues when in excess; treatments to manage these effects are only somewhat effective.

research Acne and Sebaceous Gland Function

463 citations, September 2004 in “Clinics in dermatology”

Effective acne treatments should reduce sebum, bacteria, and inflammation, with isotretinoin being the best for severe cases.

research Update and Future of Systemic Acne Treatment

117 citations, January 2003 in “Dermatology”

Future acne treatments will be more effective and have fewer side effects.

research The SAHA Syndrome: Overview and Classification

70 citations, January 2000 in “Hormone Research in Paediatrics”

SAHA syndrome is a condition in women involving skin and hair issues, often related to hormonal imbalances, and is treated based on the underlying cause.

research Androgen Receptor Polymorphisms (CAG Repeat Lengths) in Androgenetic Alopecia, Hirsutism, and Acne

186 citations, July 1998 in “Journal of Cutaneous Medicine and Surgery”

Shorter CAG repeats may cause hair and skin issues, while longer ones may link to acne.

research Acneiform Dermatoses

45 citations, January 1998 in “Dermatology”

Some skin conditions look like acne but are caused by drugs, and they usually get better when the drug is stopped.

Related Research

3 / 3 results

research Polycystic Ovary Syndrome and Acne

10 citations, November 2010 in “Skin therapy letter”

Women with PCOS often have acne because of high androgen levels, and the article reviewed how to treat this type of acne.

research Ovarian Morphology and Prevalence of Polycystic Ovary Syndrome in Reproductive Aged Women With or Without Mild Acne

20 citations, June 2010 in “International Journal of Dermatology”

Women with mild acne are more likely to have polycystic ovary syndrome (PCOS) than those without acne.

research Diagnosis and Management of the Dermatologic Manifestations of Polycystic Ovary Syndrome

97 citations, July 2006 in “Dermatologic therapy”

The document concludes that accurate diagnosis and personalized treatment are important for skin problems in women with PCOS.

Acne Syndromes and Mosaicism

Research cited in this study

research Beyond Acne: Current Aspects of Sebaceous Gland Biology and Function

research Acne Tarda and Male-Pattern Baldness Unmasking Primary Ovarian Insufficiency: A Case and Review

research Acne as a Chronic Systemic Disease

research Emerging Concepts About Prenatal Genesis, Aberrant Metabolism, and Treatment Paradigms in Polycystic Ovary Syndrome

research Pathways to Inflammation: Acne Pathophysiology

research Acne-Associated Syndromes: Models for Better Understanding of Acne Pathogenesis

research Polycystic Ovary Syndrome and Acne

research Anti-Androgen Treatments for Hirsutism and Acne in Women of Childbearing Age

research New Developments in Our Understanding of Acne Pathogenesis and Treatment

research Role of FGFR2-Signaling in the Pathogenesis of Acne

research Anti-Acne Agents Attenuate FGFR2 Signal Transduction in Acne

research Androgen Action on Human Skin – From Basic Research to Clinical Significance

research Acne and Sebaceous Gland Function

research Update and Future of Systemic Acne Treatment

research The SAHA Syndrome: Overview and Classification

research Androgen Receptor Polymorphisms (CAG Repeat Lengths) in Androgenetic Alopecia, Hirsutism, and Acne

research Acneiform Dermatoses

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research Polycystic Ovary Syndrome and Acne

research Ovarian Morphology and Prevalence of Polycystic Ovary Syndrome in Reproductive Aged Women With or Without Mild Acne

research Diagnosis and Management of the Dermatologic Manifestations of Polycystic Ovary Syndrome