boards’ fodder Shaft Disorders Elena Nogales M.D., and Sheila M. Valentín Nogueras M.D., F.A.A.D.

Clinical Microscopic Associated Inheritance/ Other findings Comment findings findings syndrome(s) Genetic defect With increased hair fragility Trichorrhexis Frayed cortical Argininosuccinuria AR/ Organ toxicity, Arginine nodosa (TN) fibers pushed Argininosuccinate seizures, hyperam- supplementation up against lyase deficiency monemic coma, can be beneficial each other. neurologic dam- in patients with age, growth less severe retardation. deficiencies. Citrullinemia AR/ PT, acrodermatitis Argininosuccinic enteropathica-like acid synthetase dermatitis. deficiency Trichoschisis Eyebrows Clean trans- AR/Nuceotide Photosensitivity Low cystine and eye- verse fracture. excision repair (without increased (sulfur) content of lashes also Alternating genes (XPD, XPB, risk of skin cancer), hair is postulated affected light and dark TTD-A) intellectual impair- to account for bands (“tiger- TTDN1 (non-pho- ment, decreased cuticular and tail”) seen with tosensitive TTD) fertility, short stat- cortical polarized light. ure, progeria-like weakness. features.

Trichorrhexis Eyebrows Distal hair shaft Netherton syndrome AR/SPINK5 gene: PT, TN, ichthyosis Hair breakage invaginata (TI) may be invaginating Absent LEKTI linearis circumflexa, may improve affected into the proxi- (serine protease atopic diathesis, with age. Any mal hair shaft inhibitor) FTT, recurrent skin topical medica- (“bamboo infections, dehy- tion should be hair”). dration. used with caution due to skin barrier dysfunction. (PT) Flattened and Menkes syndrome XLR/ATP7A defi- TN, Skin/hair Low serum twisted at ciency hypopigmentation, copper and 180° angles. “doughy” skin, ceruloplasmin. Fractures lethargy, seizures, Parenteral cop- occur at twists. FTT, MR, joint lax- per histidine in ity, vascular the first 8 weeks Dr. Elena Nogales abnormalities. of life may be M.D., is a second- of benefit; most year resident in do not survive the department of beyond the first decade of life. dermatology at the University of Björnstad syndrome AR/BCS1-like Congenital sensori- protein deficiency neural hearing loss. Puerto Rico. Crandall syndrome AR Congenital sensori- neural hearing loss and hypogonad- ism. Monilethrix Hair rarely Nodes/ AD/hHB6, hHB1, TN, keratotic fol- Topical minoxidil grows beyond internodes at AR/Desmoglein 4 licular papules at and oral etretinate 1-2cm regular the nape of the may improve hair in length intervals. neck, upper back, growth. because of Breaks at and arms. breakage internodes. Without increased hair fragility Alternating Alternating AD, sporadic Thought to be Sheila M. Valentín (PA) light and dark light and dark caused by forma- Nogueras, M.D. is an bands; only bands. tion of abnormal assistant professor detectable air cavities in the in the department of in lightly pig- hair shaft. dermatology at mented hair the University of Loose Hair is easily Anagen AD,sporadic/ Most cases are Puerto Rico. anagen pulled from without IRS, defect blonde girls >2 syndrome the scalp ruffled cuticle. (K6hf) years of age. (LAS) Gentle hair care recommended. irinections D­Residency p. 4 • Summer 2010 boards’ fodder Hair Shaft Disorders (cont.) Elena Nogales M.D., and Sheila M. Valentín Nogueras M.D., F.A.A.D.

Clinical Microscopic Associated Inheritance/ Other findings Comment findings findings syndrome(s) Genetic defect Without increased hair fragility Uncombable Dry, shiny Longitudinal AD Hair tends to be hair (“spun- grooving more manageable syndrome glass”), (Pili trianguli with age. A posi- (UHS) cannot be et canaliculi) tive response to combed flat. on EM. biotin has been Not as notice- reported in a few able in dark cases. hair Other Woolly hair Tightly Naxos disease AR/ TN, trichoschisis, (WH) curled hair in PA, PPK, arrhyth- persons of mogenic right ven- non-African tricular cardiomy- ancestry opathy (ARVC). Carvajal syndrome AR/ TN, trichoschisis, PA, striated PPK, biventricular . Naxos-like disease AR/Desmoplakin TN, trichoschisis, PA, ARVC, early- onset blistering, xerosis. Woolly hair and skin AR/Desmoplakin TN, trichoschisis, No cardiac fragility syndrome PA, early-onset abnormalities. blistering, PPK, dystrophic nails, alopecia. Diffuse partial AD TN, trichoschisis, woolly hair PA, cataracts, pap- illary membranes.

Hair is lighter Woolly hair nevus Sporadic TN, trichoschisis, and thinner PA, ipsilateral epi- when com- dermal or congeni- pared to tal nevus (50%), adjacent, precocious puber- normal hair. ty, bone/speech/ dental anomalies. Curly hair Large loose CHAND AR Ankyloblepharon, spiral locks syndrome nail dysplasia, ataxia. Trichodentosseous AD/Homeobox Enamel hypoplasia, syndrome protein (DLX3) otosclerosis, doly- chocephaly, frontal bossing. Costello syndrome AR, AD/GTP Growth deficiency, Increased risk binding protein in MR, coarse facies, of rhabdomyo- MAPK pathway periorificial papillo- sarcoma, neu- (Hras) mas, solid tumors. roblastoma, and transitional cell carcinoma. Noonan syndrome AD/SHP-2 tyro- WH, dysmorphic sine phosphatase facies, ear/ocular/ (PTPN11) cardiovascular anomalies, multiple nevi, short stature, webbed neck, pilaris atrophicans. *FTT= failure to thrive, MR= mental retardation

References 1. Cheng AS, Bayliss SJ. The genetics of hair shaft disorders. J Am Acad Dermatol. 2008; 59: 1-22. 2. Itin PH, Fistarol SK. Hair shaft abnormalities-clues to diagnosis and treatment. Dermatology. 2005; 211:63-71. 3. Spitz J.(2005) Genodermatoses: A clinical guide to genetic skin disorders; Second edition. Lippincott Williams & Wilkins. irinections Summer 2010 • p. 5 D­Residency