Polydactyly

Disease Description (Causes and Symptoms)

• Definition summary
  • Hypertrichosis: A condition in which hair growth (length and density) abnormally increases throughout the body or in localized areas, independently of androgen.
  • Hirsutism: In women, a condition in which vellus (fine) hair changes into terminal (thick, dark, male-pattern) hair due to androgen excess or increased local sensitivity, resulting in increased hair growth in a male-pattern distribution (chin, upper lip, chest, abdomen, etc.).
• Main causes (summary)
  • Congenital: Genetic abnormalities (such as congenital generalized hypertrichosis).
  • Acquired generalized type: Medications (steroids, minoxidil, etc.), polycystic ovary syndrome (PCOS), adrenal abnormalities (congenital adrenal hyperplasia, adrenal tumors), ovarian tumors (androgen-secreting tumors), Cushing syndrome, hyperprolactinemia, exogenous androgen use, etc.
  • Acquired localized type: Nevi and skin tumors, repeated irritation, occlusion caused by flaps or casts, etc.
• Brief pathophysiology
  • Increased androgens (testosterone, DHT) or increased follicular sensitivity to androgens → conversion of vellus hair to terminal hair. 5α-reductase (testosterone → DHT) and local hormone metabolism play important roles.
• Clinical symptoms
  • Hypertrichosis: Increased hair density and length in any area.
  • Hirsutism: Thick, dark hair in a male-pattern distribution in women; accompanying symptoms may include acne, male-pattern hair loss, irregular menstruation, weight gain, and infertility. Acute or rapid progression or typical virilization (virilizing symptoms: deepening of the voice, increased muscle mass, clitoral enlargement, etc.) raises suspicion of an androgen-secreting tumor or exogenous androgen use.

Treatment (Standard Treatment · Medications · Procedures/Surgery · Lifestyle Management · Precautions)

• Principles before diagnosis
  • First, rule out underlying causes (tumors, endocrine abnormalities, and medications). Identify the cause through hormone tests and imaging studies.
• Testing and treatment of the cause
  • Blood tests: Total/free testosterone, DHEA-S, 17-OHP (for congenital 21-hydroxylase deficiency), LH/FSH, prolactin, TSH, fasting glucose/insulin and lipid tests, etc.
  • Imaging: Ovarian ultrasound (when polycystic ovaries or an ovarian tumor is suspected), adrenal CT, brain MRI (if needed).
  • When the cause is identified: Surgical removal if a tumor is present; standard endocrine and gynecologic management for PCOS (weight loss and metabolic management).
• Medication treatment (main options)
  • Combined oral contraceptives (OCP): First-line drug therapy in women. Effective by suppressing androgen production and increasing SHBG.
  • Spironolactone (antiandrogen): Usually 50–200 mg/day. Combination with OCP is recommended (contraindicated in pregnancy). Monitoring for increased blood potassium is necessary.
  • Finasteride (5α-reductase inhibitor): Used in some cases (mainly ovarian- and androgen-related). Contraindicated during pregnancy in women of childbearing potential (risk of birth defects).
  • Cyproterone acetate: Used in some countries (strong androgen suppression)—refer to local guidelines regarding availability and use.
  • Topical eflornithine: Delays the rate of hair growth (mainly on the face).
  • In severe cases (such as tumor-related cases): Hormone suppressants such as GnRH agonists may be used.
• Procedural and cosmetic treatment
  • Temporary: Hair removal (shaving, waxing, depilatories, tweezing).
  • Aiming for permanent reduction: Laser hair removal (alexandrite, diode, Nd:YAG, etc.—selected according to skin color and hair characteristics), electrolysis.
  • Laser treatment and electrolysis require multiple sessions and are effective for pigmented terminal hair.
• Lifestyle management and supportive treatment
  • Weight loss (improves hormonal and metabolic status in patients with PCOS), a low-glycemic, low-carbohydrate diet is recommended, and exercise.
  • Check medication use and contraceptive status; take care to prevent skin infection and irritation when performing self-hair removal.
• Precautions and monitoring
  • Do not use antiandrogens (spironolactone, finasteride, etc.) during pregnancy or when planning pregnancy; pregnancy testing before treatment and reliable contraception are necessary.
  • Perform periodic blood potassium testing when using spironolactone.
  • Monitor liver function when using medications with a risk of hepatotoxicity (e.g., flutamide).
  • For laser treatment, an experienced practitioner is recommended because of the risk of pigmentary complications (hyperpigmentation/hypopigmentation) and burns.

Checklist Before an Outpatient Visit (Including Example Questions)

• Items and records to prepare
  • List of currently used medications and supplements (including steroids and androgens).
  • Menstrual history (date of last menstrual period, regularity), and confirmation of pregnancy status (if there is a possibility).
  • When symptoms began, rate of progression (slow vs. rapid), and photographs of affected areas (for comparison of progression).
  • Family history (hypertrichosis, hormonal abnormalities, ovarian or adrenal tumors, etc.).
  • Weight and height (whether obesity is present), and blood pressure records (if available).
  • Previous test results (hormone tests, ultrasound, CT/MRI, etc.).
• Examinations and evaluations during the outpatient visit
  • Assessment of the clinical distribution (whether signs of virilization are present), orders for blood tests, and scheduling of imaging tests if needed.
• Items to tell the healthcare provider first during the outpatient visit (examples)
  • “Has your hair increased rapidly recently, or have virilization symptoms accompanied it?” — Rapid progression raises suspicion of a tumor.
  • “Is there currently a possibility that you are pregnant, or are you planning to become pregnant?” — This affects medication selection.

Examples of General Questions to Ask the Doctor

• When will the expected effects of this medication (or treatment) begin? (For example, OCP/spironolactone generally shows significant improvement after 3–6 months.)
• What are the main side effects of each medication, and what are the monitoring guidelines (liver tests, potassium, etc.)?
• Is laser treatment effective for my skin and hair type? How many sessions will be needed?
• How does this condition affect infertility or metabolic diseases (insulin resistance and diabetes)?

Examples of Condition-Specific Questions

• If PCOS (polycystic ovary syndrome) is suspected:
  • “Can PCOS be diagnosed based on the hormone test results (total testosterone, LH/FSH, DHEA-S, etc.)? Can lifestyle changes improve the symptoms?”
• If there is acute or rapidly progressing virilization:
  • “Rapidly progressing virilization (voice changes, clitoral enlargement, etc.) has been observed. Should testing for tumors (ovarian or adrenal) be performed immediately?”
• If considering laser treatment:
  • “Which type of laser is most suitable for my skin and hair color, and how many sessions are expected?”

(If necessary, consultation with dermatology, endocrinology, and gynecology is recommended.)