hair shaftmonilethrixpili tortitrichorrhexisbamboo

Hair Shaft Abnormalities

הפרעות גבעול השיער

📖 מבוא

Hair shaft abnormalities — structural defects of the hair fiber causing fragility, unruly hair, or cosmetic concerns. Inherited (monilethrix, trichorrhexis invaginata/Netherton, pili torti) vs acquired (trichorrhexis nodosa — most common, traction, chemical damage). Bologna Ch 95.

📝 אנמנזה

שיער שביר/נשבר? שיער שלא גדל מעבר לאורך מסוים? מלידה? היסטוריה משפחתית? טיפולי שיער כימיים (צביעה, החלקה, bleaching)? שיער "לא מסתרק"? Ichthyosis/atopy?

🔍 בדיקה

Trichorrhexis nodosa (acquired, שכיח): white nodes along shaft = fracture points. Trichoscopy: "broomstick" fractured ends. Monilethrix: beaded hair (elliptical nodes alternating with thin internodes), follicular keratosis occipital. Pili torti: flattened, twisted hair (180°), sparkles in light. Trichorrhexis invaginata (bamboo hair): Netherton syndrome (ichthyosis linearis circumflexa, atopy). ⚠️ Uncombable hair syndrome (pili trianguli et canaliculi): silver-blond, stands up, triangular cross-section.

📋 סיכום

ממצאים מתאימים להפרעת גבעול שיער. Trichoscopy + מיקרוסקופיה.

💊 המלצות

🔬 בירור

-בירור: Light microscopy of plucked hairs — shaft abnormalities. Trichoscopy (dermoscopy of scalp): fractures, nodes, twists. Scanning electron microscopy (SEM) for subtle defects. ⚠️ Polarized light microscopy: pili annulati (alternating light/dark bands). Genetic testing: monilethrix (KRT81/KRT83/KRT86, AD), Netherton (SPINK5, AR), uncombable hair (PADI3/TGM3/TCHH, AR).

-DDx: Alopecia areata (exclamation mark hairs, patchy), Tinea capitis (KOH/culture+), Trichotillomania (irregular patches, broken hairs), Telogen effluvium (diffuse shedding, no shaft abnormality).

💊 טיפול

-Inherited: Monilethrix — no cure, gentle hair care, minoxidil may help. Low-dose acitretin (case reports). Avoid trauma. Netherton syndrome — emollients, TCI (tacrolimus), ⚠️ avoid TCS (increased absorption — ichthyotic skin), IVIG for severe. Pili torti — may improve with age, rule out associated syndromes (Bjornstad: deafness, Menkes: copper deficiency XLR — serum copper/ceruloplasmin). Uncombable hair — usually improves by puberty, biotin supplements (anecdotal).

-Acquired trichorrhexis nodosa (most common hair shaft abnormality): Stop causative agent — bleaching, relaxing, excessive heat styling, chemical treatments. Gentle hair care: sulfate-free shampoo, conditioner, avoid brushing wet hair, wide-tooth comb. Biotin supplementation (2.5-5 מ"ג/יום — evidence limited but safe). Protect from friction (tight hairstyles). ⚠️ If acquired + generalized → check iron, zinc, thyroid, biotin level.

📅 מעקב

-ביקורת בעוד 3 חודשים. הפניה לגנטיקה אם inherited suspected.

⚗ מרשם

-PO BIOTIN 2.5-5 mg/d (supportive, especially acquired trichorrhexis nodosa) - OTC

-Topical MINOXIDIL 2% Sol x1/d (monilethrix — may improve) - 1OP