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שcongenital generalized hypertrichosis
ביטוי קליני
דוגמאות למחלות אלה
צמיחה מוגברת של שיער על פני שטח העור על רקע שינויים גנטיים
ברוב הסינדרומים יש ביטוי חוץ עורי לדוגמא דיסמורפיזם או היפרפזיה של החניכיים אך לעתים יש ביטוי של שיעור בלבד
דוגמאות:
- universal hypertrichosis: לעתים נחשב משפחתי או constitutional
- חשיפה לתרפות בהריון: מינוקסידיל
Prepubertal hypertrichosis
האם ייתכן בילדים בריאים? מוצא?
כן שכיח בילדים ממוצא ים תיכוני או דרום אסיאתיים
Prepubertal hypertrichosis
קליניקה?
דפוס צמיחה?
שיער פגמנטרי עם מעורבות של הפנים במיוחד מצח וקדמת האוזן
גפיים פרוקסימליות וגב
בגב צמיחה בדפוס inverted fir tree
Bushy eyebrows
low anterior hairline
כאשר צמיחה מוגברת בפנים, ייתכן בלבול או חפיפה עם הירסוטיזם ולעתים אפילו ישנה עדות לרמות גבוהות של אנדרוגנים בדם
Acquired generalized hypertrichosis
אתיולוגיה?
קליניקה
לרוב drug induced
מאופיין בצמיחה של שיער טרנמינלי בעובי בינוני בקצב איטי
לרוב באזור המצח גו ואספקט פלקסורי של הגפיים
לרוב הפיך
פיזור שונה מ
drug-induced hirsutism.
עוד אתיולוגיות?
disorders of the CNS (e.g. traumatic brain injuries)
juvenile hypothyroidism
juvenile dermatomyositis
acromegaly (especially of the lower face)
malnutrition (including anorexia nervosa)
POEMS syndrome
advanced HIV disease.
Acquired hypertrichosis lanuginosa?
צמיחה של שיער לנוגו על פני כל העור תוך תקופה קצרה. לעתים רק בפנים עם מקרה
simian
נחשב לביטוי פארהנאופלסטי של ממאירות
פנימית, לרוב:
ריאה קולון שד
לעתים ביטוי שמקדים את האבחנה!
קשר לדרמטוזות פארהנאופלסטיות אחרות?
acanthuses nigricans
palmoplantar keratoderma
sign of Leser–Trélat
acquired ichthyosis
Localized hypertrichosis
קליניקה?
סיבות?
לרוב מעבר משיער וולוזי לשיער טרמינלי באזורים שאין בהם שיער טרמינלי בד״כ
סיבות?
hamartoma
isolated congenital lesion
manifestation of a systemic disease (inherited or acquired)
consequence of cutaneous trauma or inflammation.
Congenital melanocytic nevi - hypertrichosis correlation?
associated with hyper trichinosis at birth or during infancy/early childhood.
sometimes: dense growth of terminal hairs
Plexiform neurofibromas and hypertrichosis?
Plexiform neurofibromas can also have associated hyperpigmentation and hypertrichosis.
Becker melanosis?
hematoma, haracterized by macular hyperpigmentation with irregular borders
location of Becker melanosis? hypertrichosis? when does it arises?
most commonly - the upper lateral trunk (anterior or posterior)
Some patients have associated hypertrichosis
usually pigmentation - first decade
hypertrichosis - second decade of life
Becker melanosis - female/male?
most often diagnosed in boys/men
Becker melanosis - correlated mutation?
Postzygotic mutations in the ACTB gene encoding β-actin have been found to underlie Becker melanosis and associated anomalies as well as smooth muscle hamartomas
Becker melanosis associated anomalies?
- asymmetry of the extremities
- hyperplasia or hypoplasia of the affected areas especially ipsilateral mammary hypoplasia in women or, less often, the Poland anomaly (unilateral chest wall hypoplasia and ipsilateral hand syndactyly).
- genitourinary tract abnormalities, for example, SNUB syndrome: supernumerary nipples, uropathies, Becker melanosis
- hemimaxillofacial dysplasia: hypertrichosis associated with Becker or smooth muscle hamartomas
surgical treatment of Becker melanosis?
other treatment?
Because of its benign nature, surgical removal of Becker melanosis is not recom- mended. Epilation can be performed by various techniques, but attempts at decreasing pigmentation via laser therapy are often not successful.
Smooth muscle hamartomas and hypertichosis? generalized form?
may present as circumscribed hypertrichotic plaques with variable hyperpigmentation
A rare generalized form is characterized by extensive hypertrichosis and folding of the skin which has been reported under the term “Michelin tire baby”
infantile tumors/hamartomas associated with hypertrichosis?
plaque-type blue nevus
neurocristic hamartoma
fibrous hamartoma of infancy
dermal dendrocyte hamartoma
eccrine angiomatous hamartoma
tufted angioma
what is Nevoid hypertrichosis?
extracutanous associations?
cutaneous
uncommon congenital alteration characterized by the growth of terminal hairs in a circumscribed area
- primary: the skin within the affected area is normally pigmented and there is no underlying hamartoma, without extracutanous manifestations
- secondary: associated with lipodystrophy, hemihypertrophy, scoliosis, and abnormalities of the underlying vasculature. Proteus and Happle–Tinschert syndromes.
- cutaneous associations: epidermal nevi or nevoid hypopigmentation
what is Dysraphism?
spinal dysraphism?
Dysraphism is defined as an alteration of the formation of a fold or elevation which is constituted in the midline of the human body during the union of two lateral portions
In spinal dysraphism, abnormal closure of the neural tube leads to defects in the vertebral column and/ or spinal cord
Skin lesions marking a hidden vertebral defect - location? examples?
usually in the dorsal midline.
The faun tail: is most often a sign of spina bifida occulta or diastematomyelia (split spinal cord), and is typically located in the lumbosacral region.
hair collar sign: 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
hypertrichosis within sun-exposed areas?
one of the signs of the porphyrias – in particular, porphyria cutanea tarda and hepatoerythropoietic porphyria
low frontal hairline and synophrys (“unibrow”)?
Cornelia de Lange syndrome
infrapatellar hypertrichosis? SYSTEMIC DISEASE?
juvenile dermatomyositis
localized hypertrichosis in acquired systemic disease?
hypertrichosis overlying pretibial myxedema or indurated plaques of Rosai–Dorfman disease, and areas affected by the complex regional pain syndrome.
causes of Acquired localized hypertrichosis?
repeated trauma, friction, irritation, or inflammation > hair become longer and thicker
examples:
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
hypertrichosis has been described overlying lipoatrophy following lupus panniculitis and within resolving lesions of psoriasis and morphea.