We report two patients, mother and daughter, presenting a Marie Unna's syndrome and belonging to a family in which the disease appeared in seven members in a period of four generations. [moh-it.pure.elsevier.com]

Structural hair defects may be presented with a genetic disorder affecting hair growth or part of a congenital syndrome or may indicate underlying metabolic disorders, or may be associated with other diseases. [e-ijd.org]

EEM Syndrome Clinical Characteristics Ocular Features: Granular pigmentation and a grayish coloration of the retina may be present. [disorders.eyes.arizona.edu]

However, the case discussed here had only one major criterion of NBCCS at the time of presentation. [ijtrichology.com]

The nine affected adults presented with sparse, thin and short hair. Somewhat less sparse and longer hair was observed in the two affected young children in the third generation. [doi.org]

• Turkish

  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]

• Sparse Eyebrows

  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]

  The eyebrows may be hypoplastic and the eyelashes likewise are sparse. The lid fissures often slant down and telecanthus has been noted. The distance between the two eyes appears reduced. [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]

  […] scalp hair, sparse to absent eyebrows and eyelashes, and sparse axillary and body hair. [journals.plos.org]

• Dry Hair

  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

  The eyebrows, eyelashes, and other body hair may be sparse as well. [ncbi.nlm.nih.gov]

• Thin Eyebrows

  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]

[…] across all treatment groups. [journals.lww.com]

Treatment Treatment Options: No known treatment has been reported. [disorders.eyes.arizona.edu]

Treatment Unfortunately, there really is no treatment for most forms of hypotrichosis as they are genetic or congenital issues, which are often hard or impossible to treat. Some exceptions exist, however. [study.com]

Latisse is a prescription eye drop used for the treatment of hypotrichosis, a condition in which the patient has short or thin eyelashes. It grows eyelashes that are longer, darker and fuller. [sacent.com]

We are reporting this case to focus on wide range of associated manifestations, early detection, optimum management and genetic counselling in view poor prognosis. [casereports.in]

Further reading Lipase member H is a novel secreted protein associated with a poor prognosis for breast cancer patients Meizi Cui, Haofan Jin, Xiumin Shi, Ge Qu, Lidi Liu, Xiaobo Ding, Yanbo Wang & Chao Niu Tumor Biology (2014) A splice variant in KRT71 [nature.com]

Etiology Br J Dermatol 2017 Jan;176(1):138-144. Epub 2016 Dec 19 doi: 10.1111/bjd.14836. PMID: 27375176 Raykova D, Klar J, Azhar A, Khan TN, Malik NA, Iqbal M, Tariq M, Baig SM, Dahl N PLoS One 2014;9(4):e93607. [ncbi.nlm.nih.gov]

The etiology suggests that there could be poor absorption of other nutrients as well. [omicsonline.org]

Relevant External Links for LPAR6 Human Genome Epidemiology (HuGE) Navigator LPAR6 Atlas of Genetics and Cytogenetics in Oncology and Haematology: LPAR6 No data available for Genatlas for LPAR6 Gene Expression of purinergic receptors (ionotropic P2X1- [genecards.org]

Epidemiology [ edit ] It is estimated to affect less than one in a million people. [1] Only 50 to 100 cases have so far been described. [1] History [ edit ] The disease was first described in 1935 by Hans Wagner, a German physician. [2] References [ edit [en.wikipedia.org]

A powerful approach to advance our understanding of the pathophysiology of hair loss is to identify the genes underlying isolated and syndromic forms of hair loss. [jpma.org.pk]

Rapidly find the answers you need with separate sections on diseases and disorders, differential diagnosis, clinical algorithms, laboratory results, and clinical preventive services, plus an at-a-glance format that uses cross-references, outlines, bullets [books.google.com]

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

Lens opacification may be severe even early in life and requires prompt surgical intervention to prevent amblyopia. [disorders.eyes.arizona.edu]

Subjects with systemic diseases, including all types of alopecia areata, which could prevent hair growth or produce abnormal growth were excluded, along with subjects with substantial permanent eyebrow loss due to overgrooming; any skin pigmentation/depigmentation [journals.lww.com]