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Acne - MedlinePlus Genetics

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Last Updated: 05 December 2022

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Hidradenitis suppurativa

Hidradenitis suppurativa, also known as acne inversa, is a chronic skin disease characterized by recurrent boil-like lumps under the skin. The nodules have enflamed and painful. As the abscess heal, they cause significant scarring of the skin. The signs and symptoms of hidradenitis suppurativa typically appear after puberty, usually in a person's teens or twenties, but they can develop earlier in puberty, especially in impacted females. Nodules are most likely to appear in the armpits and groin. Long-term absces on the buttocks may progress to a form of skin cancer called squamous cell carcinoma.

Source link: https://medlineplus.gov/genetics/condition/hidradenitis-suppurativa


Dowling-Degos disease

These skin changes typically appear in the armpits and groin area and may progress to other skin folds, such as the crook of the elbow, back of the knee, and under the breasts. Individuals with Dowling-Degos disease may have blackheads, red bumps around the mouth that look like acne, or pitted scars on the forehead with no history of acne. Although Dowling-Degos disease skin changes can cause anxiety or fear, they do not cause any other health problems. Individuals with Galli-Galli disease also have a cell loss in the outer layer of skin, in addition to pigmentation changes. Acantholysis can cause skin irritation and itching, and may result in reddened or missing patches of skin.

Source link: https://medlineplus.gov/genetics/condition/dowling-degos-disease


Cytochrome P450 oxidoreductase deficiency

The deficiency of Cytochrome P450 oxidoreductase is due to a hormonal imbalance. The metabolic fluctuations associated with cytochrome P450 oxidoreductase deficiency can influence the reproductive system, skeleton, and other organs of the body. The signs and symptoms of cytochrome P450 oxidoreductase deficiency can vary from mild to severe. Signs and symptoms of mild cases include a failure to start menstruation by age 16, an inability to have biological children in both male and female, and a condition called polycystic ovarian syndrome. A hormonal imbalance in women can result in irregular menstruation, acne, excess body hair, and weight gain. People with moderate to severe cytochrome P450oxidoreductase deficiency may have external genitalia that do not appear male or female, and they may have infertility. People with moderate to moderate cytochrome P450 deficiency do not have skeletal abnormalities. Deficiency in the cytochrome P450 oxidoreductase deficiency is often described as Antley-Bixler syndrome, with genital abnormalities and a disordered steroidogenesis. Other skeletal abnormalities may include joint deformities that restrict mobility; long, slender fingers; bowing of the thigh bones; and radiohumeral synostosis, which is a bone abnormality that holds the elbows in a bent position. Even though they do not have the condition, women with fetuse deficiency caused by cytochrome P450 oxidoreductase deficiency have mild signs of the condition.

Source link: https://medlineplus.gov/genetics/condition/cytochrome-p450-oxidoreductase-deficiency


Aromatase deficiency

Aromatase deficiency is a condition characterized by lower levels of the female sex hormone estrogen receptor estrogen and elevated levels of male sex hormone testosterone. Females with aromatase deficiency have a common female chromosome pattern, but some are also born with external genitalia that do not appear to be female or male. Men with this disease have a common male chromosome pattern and are born with male external genitalia. Bone calcification and bone thinning are both reduced bone mineralization and bone thinning, which can lead to bone fractures without suffering. Males and females with aromatase deficiency can have abnormally high blood sugar levels as a result of the body's inability to respond properly to insulin. Even though they do not have the disorder, women who are pregnant with fetus deficiency have mild signs of the condition.

Source link: https://medlineplus.gov/genetics/condition/aromatase-deficiency


Müllerian aplasia and hyperandrogenism

Individuals with Mu00fcllerian aplasia and hyperandrogenism have underdeveloped or absent uterus, as well as abnormalities of other reproductive organs. Women with this disorder have normal female genitalia, and they have normal pubic hair at puberty; however, they do not begin menstruation until age 16, and they will likely never have a menstrual period. Women with Mu00fcllerian aplasia and hyperandrogenism have elevated-than-average levels of male sex hormones called androgens in their blood, which can lead to acne and excessive facial hair.

Source link: https://medlineplus.gov/genetics/condition/mullerian-aplasia-and-hyperandrogenism


Familial male-limited precocious puberty

Familial male-limited precocious puberty is a disorder that contributes to early sexual maturity in males; females are unaffected. Between the ages of 2 and 5 years old, boys with this disorder begin showing the signs of puberty in early childhood. Infants with no treatment begin to grow quickly at first, but they stop growing faster than average.

Source link: https://medlineplus.gov/genetics/condition/familial-male-limited-precocious-puberty

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions