Pasternack SM, Murugusundram S, Eigelshoven S, Müller M, Kruse R, Lehmann P, Betz RC. (2009) Novel mutations in the P2RY5 gene in one Turkish and two Indian patients presenting with hypotrichosis and woolly hair. Arch. Dermatol. [guidetopharmacology.org]

Novel mutations in the P2RY5 gene in one Turkish and two Indian patients presenting with hypotrichosis and woolly hair. Arch Dermatol Res 301, 621–4 (2009). 7. Jelani, M., Wasif, N., Ali, G., Chishti, M. & Ahmad, W. [nature.com]

In most cases body hair, axillary hair, and public hair were also sparse. Eyebrows, eyelashes, and beard hairs were not affected. Under light microscopy, the bulb portion of the plucked hair showed dystrophic features and was miniaturized. [omim.org]

Ptosis, microcornea, congenital cataracts, sparse eyebrows, and strabismus are usually present. Epicanthal folds are often seen. Systemic Features: Psychomotor development is severely delayed and with delay or absence of milestones. [disorders.eyes.arizona.edu]

Clinical features of affected individuals with this form of alopecia include: shedding of normal scalp hair several months after birth with failure to regrow; appearance of skin papules within the first year of life; sparse eyebrows and eyelashes; lack [jpma.org.pk]

(E–G) Affected members III-2 and IV-6 (family A) and IV-13 (family C) showed woolly scalp hair/sparse scalp hair, sparse eyebrows and eyelashes. [journals.plos.org]

Dry hair MedGen UID: 75809 • Concept ID: C0277960 • Finding Hair that lacks the lustre (shine or gleam) of normal hair. [ncbi.nlm.nih.gov]

Sparse eyelashes MedGen UID: 375151 • Concept ID: C1843300 • Finding Decreased density/number of eyelashes. Sparse scalp hair MedGen UID: 346499 • Concept ID: C1857042 • Finding Decreased number of head hairs per unit area. [ncbi.nlm.nih.gov]

Sparse and thin eyebrow MedGen UID: 371332 • Concept ID: C1832446 • Finding Decreased density/number and/or decreased diameter of eyebrow hairs. [ncbi.nlm.nih.gov]

Access full-color images and more than 90 online-only topics at Expert Consult, as well as EBMs, Suggested Reading, Patient Teaching Guides, and additional algorithms. [books.google.com]

A phenotypic variation was observed amongst the family members and is suggestive of a reduced penetrance of the trait or the effect of a modifying factor. [doi.org]

It may affect normal hair following excessive or repeated trauma, or may occur after minimal trauma if there is an inherent defect in keratin synthesis causing abnormally brittle hair. [5], [6] Blume-Peytavi U, et al. suggested the triad of hypotrichosis [e-ijd.org]

Participating optometrists “volunteer their time […] Continue Reading March 9, 2009 Vigorous exercise may help prevent AMD, cataracts, studies suggest. [visionsource-drjack.com]

Ultrasound of sacral region suggested a blind sinus. 2D Echo, brainstem enhanced response audiometry and MRI brain of child was normal. [casereports.in]