Hypertrichosis and Hirusitism Flashcards
How can you tell hypertrichosis from hirsutism?
So the hirsutism is in androgen-dependent sites.
How can hypertrichosis be classified?
Can be classified based on its distribution (generalized versus localized), the age of onset (congenital or programmed from birth versus acquired), and the type of hair (lanugo or vellus versus terminal).
What is hypertrichosis?
Growth of excessive hair anywhere on the body
What is a key distinguisher of hirsutism from hypertrichosis?
Hirsutism happens in a male pattern way because it is an androgen-dependent process. This leads to excessive growth of terminal hairs in androgen-dependent sites (male-patterned)
What is generalized hypertrichosis?
lanugo hair, excess vellus hair, or terminal hair over much of the cutaneous surface -includes an acquired transformation of terminal hair into lanugo hair
What is lanugo hair?
- Non-pigmented, non-medullated, fine hair that covers the fetus and can grow up to several centimeters in length
- Normally shed in utero
- Replaced by vellus hair on the body and terminal hair on the scalp
What are the two major types of generalized hypertrichosis and then what are the two major subdivisions for each of those?
2 major categories: Congenital vs Acquired 2 categories within each of those: fine lightly colored or lanugo hairs vs pigmented/terminal hairs
3 major types of congenital generalized hypertrichosis without extracutaneous findings
- Congenital hypertrichosis lanuginosa
- Universal hypertrichosis
- Ambras syndrome (hypertrichosis universalis congenita, ambras type)
The inheritance pattern for all three types of congenital generalized hypertrichosis?
AD
Findings in congenital hypertrichosis lanuginosa?
Fetal vellous hair is not replaced and continues to grow.
- Fine, downy silvery hair that can be up to 10cm in length
- Involves the whole body surface except the palms, soles, dorsal distal phalanges, and prepuce
- occasional dental abnormalities.
Findings of universal hypertrichosis?
- Thicker longer hair than others that is most prominent on the back, proximal extremities, frontal, temporal and preauricular areas of the face
- Increases during infancy and tends to persist
- Thought by some to be exaggerated normal “hairiness”
Presentation of ambras syndrome?
Fine, silky, lightly colored hair that is concentrated evenly on the face, ears and shoulders.
- Persists for life
- May be associated with facial dysmorphism, dental abnormalities, and supernumerary nipples
Most common medications to cause hypertrichosis?
Minoxidil, phenytoin, cyclosporin
Medications that can cause hypertrichosis?
Streptomycin, benoxaprofen, corticosteroids, diaoxizide, minoxidil, prostaglandin E1, acetazolimide, phenytoin, cyclosporin, mycofenalate mofetil, methoxypsoralen, trimethylpsoralen, hexachlorobenzene, penicillamine, intereron-a, fenoterol, EGFR inhibitors
11 types of generalized hypertrichosis with extracutaneous findings?
x-linked hypertrichosis, congenital generalized hypertrichosis with or without gingival hyperplasia, cantu syndrome, zimmermann-laband syndrome 1/2, coffin-siris syndrome 1-5, schinzel-giedon midface retraction syndrome, gorlin-chaudry-moss syndrome, adducted thumbs syndrome, barber-say syndrome,amourosis congenita cone-rod type with congenital hypertrichosis, CAHMR
The phenotype of x-linked hypertrichosis (HCT2)?
XLD Curly, shorter, dark hair most prominent on the face and upper body. Anteverted nostrils, prognathism, occasional dental anomalies, deafness.
- Female carriers can also notice nevoid hypertrichosis following lines of blashko
Phenotype of congenital generalized hypertrichosis with or without gingival hyperplasia (HCT3)
AD or AR Dark terminal hairs on the peripheral face, central back, and extremities
- In addition to gingival hyperplasia, coarse facies, ID, seizures
Phenotype of Cantú syndrome (hypertrichotic osteochondrocdysplasia)?
AD Coarse facies, osteochondrodysplasia, macrosomia at birth, cardiomegaly
What is the phenotype of zimmermann-laband syndrome 1 & 2?
AD -Gingival hyperplasia, coarse facies, hypoplastic nails and distal phalanges, joint hyperextensibility, splenomegaly, ID
Phenotype of Coffin-Siris syndrome 1-5?
AD Sparse scalp hair, coarse facies, hypoplastic 5th fingernails and toenails, GD, ID
Phenotype of Schinzel-Giedion midface retraction?syndrome?
AD Midfacial vascular stain, midfacial retraction, hyper-convex nails, hypoplastic distal phalanges and dermatoglyph, GU anomalies, GD, ID
Phenotype of Gorlin-Chaudry-Moss syndrome?
AR vs XLD Craniofacila dysostosis with midfacial hypoplasia, hypoplastic distal phalanges, ocular and dental anomalies, genital hypoplasia, OD
Phenotype of adducted thumbs syndrome?
AR Arthrogryposis, craniosynostosis, myopathy
Phenotype of Barber-Say syndrome?
AD -Lax skin, ectropion, macrostomia, coarse facies, hypoplastic nipples, GD
Gene affected in x-linked hypertrichosis (HTC2)?
FGF13
Genes affected by congenital generalized hypertrichosis with or without gingival hyperplasia?
SOX9 and ABCA5
Genes affected by Cantú syndrome?
ABCC9
Genes affected by Zimmermann-Laband syndrome I & 2?
KCNH1 and ATP6V1B2
Genes affected by Coffin-Siris syndrome 1-5
ARID1B, ARID1A, SMARCB1, SMARCA4, SMARCE1
Genes affected by Schinzel-giedion midface retraction syndrome?
SETBP1
Genes affected by Barber-Say syndrome?
TWIST2
What is prepurbertal hypertrichosis?
Pigmented hair present in widespread, diffuse, distribution, it tends to get more obvious in childhood.
- Involves the forehead, temples, and preauricular area, proximal extremities and back.
What is the distribution for prepubertal hypertrichosis?
Involvement of the forehead, temples, and preauricular area, proximal extremities, and back; “inverted fir tree” pattern Bushy eyebrows and a low anterior hairline
What group is prepubertal hypertrichosis most common in?
Mediterranean or South Asian descent
What is the most common cause of acquired generalized hypertrichosis?
Drugs
What is the clinical of acquired generalized hypertrichosis?
Characterized by slow growth of terminal hair of medium thickness. most evident on the forehead, temples, flexor aspects of the extremities, and trunk. usually reversible
What other conditions can be acquired generalized hypertrichosis be seen in?
- CNS disorders (e.g. TBI)
- juvenile hypothyroidism
- juvenile dermatomyositis
- acromegaly (lower face)
- malnutrition (including anorexia nervosa)
- POEMS syndrome
- advanced HIV infection
What is acquired hypertrichosis lanuginosa?
Paraneoplastic phenomenon as it is a/w internal malignancies, lung, colon, or breast. Occasionally may precede the diagnosis of the neoplasm.
What is the clinical of localized hypertrichosis?
Switch from vellus to terminal hair in sites that do not usually bear terminal hair
What can localized hypertrichosis happen as a result of?
- as a component of a hamartoma
- isolated congenital lesion
- a manifestation of a systemic disease (inherited or acquired)
- or as a consequence of cutaneous trauma or inflammation.
When does the hair growth on congenital melanocytic nevi often become more noticeable?
Infancy or early childhood
Besides congenital melanocytic nevi what other lesion has hyperpigmentation and hypertrichosis?
Plexiform neurofibromas
What is nevoid hypertrichosis?
growth of terminal hairs in a circumscribed area no extracutaneous associations in primary nevoid hypertrichosis; the skin within the affected area is normally pigmented no underlying hamartoma
What is the hair collar sign and what can it surround?
ring of hypertrichosis on the scalp can surround membranous aplasia cutis or ectopic neural tissue reflecting the origin of these midline lesions as incomplete neural tube defects.
Causes of localized hypertrichosis in hereditary and acquired systemic dz?
Genodermoses that can be characterized by the presence of localized hypertrichoiss as a major or secondary dx feature -hypertrichosis within sun-exposed areas is one of the signs of the porphyrias – PCT, hepatoerythropoietic porphyria Low frontal hairline and synophrys (“unibrow”) in the Cornelia de Lange syndrome are important diagnostic features of that entity. infrapatellar hypertrichosis in juvenile dermatomyositis hypertrichosis overlying pretibial myxedema indurated plaques of Rosai– Dorfman disease
What is acquired localized hypertrichosis?
After repeated trauma, friction, irritation, or inflammation, the hair within affected areas of skin may become longer and thicker e.g. hypertrichosis of the back in sack carriers, hypertrichosis of a fractured limb after the application of a plaster cast, hypertrichosis of the posterior neck in people who bear heavy weights
What is Hirsuitism?
excessive terminal hair growth in women that is within androgen-dependent sites Hirsutism reflects an increase in circulating androgens source is primarily the ovary or adrenal gland or an enhanced end-organ response to androgen
What other skin conditions may hirsutism be associated with?
seborrhea, acne, and androgenetic alopecia – dermatologic manifestations -Result of the actions of androgens on target tissues.
What is SAHA syndrome?
seborrhea, acne, hirsutism, and alopecia
Is SAHA associated with hormonal abnormalities?
No, not associated with hormonal abnormalities, anovulatory menstrual cycles, or ultrasonographic evidence of polycystic ovaries.
What are the 4 major types of constitutional (dermatologitc) hirsutism?
familial, adrenal, ovarian, and hyperprolactinemic
What labs are abnormal in polycystic ovary syndrome?
down: FSH, SHBG Up: LH, LH/FSH >3, estrone, higher testosterone
Clinical findings in SAHA?
tend to be obese, mild lateral facial and mammary hirsutism
What is adrenal hirsutism?
sutism (i.e. anterior neck to upper pubic area) together with female pattern hair loss (FPHL) male pattern hair loss (MPHL) signs of virilization thin body habitus
What is non-tumoral adrenal hirsutism - Adrenal hyperplasia?
21-hydroxylase def: 95% of CAH salt-wasting form, presents during the first 2 weeks of life with dehydration and electrolyte abnormalities (due to cortisol deficiency); female neonates : ambiguous genitalia male neonates: subtle hyperpigmentation of the genitals, flexural areas, and palmoplantar creases Late-onset CAH: due to partial enzyme deficiencies (e.g. of 21-hydroxylase) becomes clinically apparent when the physiologic need for corticosteroids increases at puberty or thereafter 40% of patients only have hirsutism
Two drivers of cushing syndrome?
Etiher high plasama ACTH levels (pituitary hyperproduction), or ectopic ACTH.
Physical features of cushing’s syndrome
clinical features: central obesity with “moon facies” and “buffalo hump”, hypertension, glucose intolerance, purple striae, and ecchymoses
What is ovarian hirsuitism?
is predominantly lateral (i.e. on the neck and the breasts), FPHL (Ludwig I–II), acne, seborrhea, obesity, and obvious menstrual disorders Non tumoral PCOS (1) oligo- or anovulatory cycles; (2) clinical or biochemical signs of hyperandrogenism (3) ultrasonographic evidence of polycystic ovaries a decrease in (FSH) and an increase in (LH), elevated serum levels of estrone and testosterone. Occasionally, the serum prolactin levels are also increased Tumoral Postmenopausal
Diagnostic criteria for PCOS?
More than 2 of the following?
- Oligo-anovulatory cycles
- total free test, clinical signs and androgen signs of excess
- Hirsuitism, androgenic alopecia, acne
- Polycystic ovaries on ultrasound.
What is pituitary hrsuitism?
secretion of hormones from the anterior pituitary particularly ACTH and prolactin pituitary adenomas and drugs Clinical features “amenorrhea–galactorrhea syndrome” and infertility. Women, younger than 50 present with FPHL, acne, seborrhea, and hirsutism signs of virilization, and galactorrhea is present in 30–80% of the patients Amenorrhea occurs in 70% of the cases 15–25% of amenorrheic (but not pregnant) women have hyperprolactinemia.
What iatrogenic hirsuitism exists?
Anabolic streroids, danazol, and oral contraceptives of the nonsteroidal progesterone type -localizes to the lateral aspects of the face and back
Treatments of hirsutism?
OCP’s with antiandrogenic prosgestins (drospirenon, cyproterone acetate. -Antiandrogens like spironolactone, cytproterone flutamide etc. -Gonadotrophin releasing hormone agonists -Insulin lower agents -Glucocorticoids.
