Symptoma

Hypotrichosis 7

AH

Unusual presentation of atrichia with papular lesions. Indian J Dermatol 2015; 60:107. [Figure 1], [Figure 2] [azmj.eg.net]

Cutis. 2017 July;100(1):E12-E14 Practice Points Hereditary hypotrichosis simplex (HHS) is a rare form of hypotrichosis that typically presents in school-aged children as worsening hair loss localized to the scalp. [mdedge.com]

The mutations in the LIPH gene, identified in the present study, include a novel homozygous splice acceptor site mutation (IVS4-1G C). [medicaljournals.se]

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]

  • Alopecia

    Therefore, our patient’s family was referred to the National Alopecia Areata Foundation website () for resources on discussing alopecia with school-aged children. [mdedge.com]

    Heritability: Autosomal recessive inheritance AKA: hypotrichosis caused by mutation in LIPH, woolly hair, autosomal recessive 2, with or without hypotrichosis, hypotrichosis 7, Mari type alopecia universalis congenita, HYPT7, total hypotrichosis, Mari [monarchinitiative.org]

    In addition, and as in alopecia areata, we offer an immunological theory as an explanation because of the presence of the lymphocytic infiltrate, especially around hair follicles. [azmj.eg.net]

    Mild cases have hair loss limited to the scalp, while severe cases show generalized alopecia. Hair shaft abnormalities are characteristic, demonstrating regularly-spaced, spindle-shaped swellings. [medicaljournals.se]

    Of hairless mice and men: the genetic basis of congenital alopecia universalis/congenital atrichia. [ijbms.mums.ac.ir]

  • Sparse to No Eyebrows

    The scalp hair is sparse to absent, eyebrows and eyelashes are normal or short and sparse, and the body hairs are normal or sparse. [nature.com]

    Affected individuals have sparse hair on the scalp, sparse-to-absent eyebrows and eyelashes, and sparse body hair. Affected male individuals have normal beard hair (1–3). [medicaljournals.se]

    Eyebrow loss and presence of wiry, twisted hair is important for diagnosis. [6] Other ectodermal structures are normal. Diffuse follicular hyperkeratosis with milia-like facial lesions may be present. [ijtrichology.com]

  • Sparse to No Body Hair

    […] scalp and body hair but normal eyelashes and eyebrows,4 and 2 Pakistani families with thinning scalp hair and sparse truncal hair.10 A mutation in the APC downregulated 1 gene, APCDD1, also has been identified in these families.10 These genetic findings [mdedge.com]

    The scalp hair is sparse to absent, eyebrows and eyelashes are normal or short and sparse, and the body hairs are normal or sparse. [nature.com]

    […] axillary and body hair. [journals.plos.org]

  • Sparse to No Body Hair

    […] scalp and body hair but normal eyelashes and eyebrows,4 and 2 Pakistani families with thinning scalp hair and sparse truncal hair.10 A mutation in the APC downregulated 1 gene, APCDD1, also has been identified in these families.10 These genetic findings [mdedge.com]

    The scalp hair is sparse to absent, eyebrows and eyelashes are normal or short and sparse, and the body hairs are normal or sparse. [nature.com]

    […] axillary and body hair. [journals.plos.org]

  • Pachyonychia

    Down’s syndrome, Noonan’s syndrome, Conradi–Hunnerman syndrome, trichodental syndrome, Schopf–Schulz–Passarge syndrome, Pachyonychia congenita, keratitis ichthyosis deafness syndrome, and monilethrix. [azmj.eg.net]

  • Lymphocytic Infiltrate

    Within the dermis, there is perivascular and patchy predominantly lymphocytic infiltrate. Some lymphocytic infiltrate is also noted about the hair follicles (hematoxylin–eosin stain, original magnification, 100 and 400, respectively). [azmj.eg.net]

Both bimatoprost treatment cohorts displayed significant improvements compared with the vehicle cohort after 1 month, which continued during the treatment and post-treatment periods ( P .035, all comparisons). [healio.com]

Management and treatment There is no treatment for hypotrichosis simplex available to date. The documents contained in this web site are presented for information purposes only. [orpha.net]

Phase 4 Bimatoprost 0.03% ophthalmic solution 11 Bimatoprost for the Treatment of Eyebrow Hypotrichosis Completed NCT01765764 Phase 3 bimatoprost solution;Vehicle to bimatoprost solution 12 Bimatoprost in the Treatment of Eyelash Hypotrichosis Completed [malacards.org]

There is no effective treatment of HHS. [mdedge.com]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.org]

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]

The prognosis of this disorder is extremely poor, as patients die in infancy. Most deaths are due to recurrent infection, acidosis and critical bleeding [ 2 ]. [casereports.in]

Hypotrichosis with keratosis pilaris is a very rare inborn skin disorder of unknown etiology. Here we report a rare case of hypotrichosis with keratosis pilaris in a 7-year-old boy. [azmj.eg.net]

Etiology Both autosomal dominant and recessive modes of transmission have been reported for HHS.Autosomal dominant HHS affecting both scalp and body hair has been reported in one Italian and two Pakistani families as due to mutations in the APCDD1 gene [orpha.net]

No clinically meaningful differences in AE rates by etiology of eyelash hypotrichosis were noted. [dovepress.com]

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

Incidence of AEs by etiology. The overall incidence of AEs, regardless of causality, was slightly higher for subjects receiving up to 12 months of bimatoprost 0.03% compared with up to six months of vehicle (47.4% vs 34.3%, respectively; Table 3 ). [jcadonline.com]

Summary Epidemiology Prevalence is unknown but numerous large pedigrees with several affected members have been described. Both men and women are equally affected. [orpha.net]

ABSTRACT:PURPOSE: Silicone cream has been shown to improve the appearance of postope... more Skin Cancer Epidemiology and Sun Protection Behaviors Among Native American.... [jddonline.com]

[…] complex hair and skin phenotype due to two rare genodermatoses: KLICK and autosomal recessive woolly hair/hypotrichosis simplex. 61 Horev L...Zlotogorski A 21275938 2011 40 Corneodesmosomes and corneodesmosin: from the stratum corneum cohesion to the pathophysiology [malacards.org]

Submit Tips While some causes of hair loss can be treated or prevented, this is not always possible. [wikihow.com]

Folliculitis following pubic hair transplantation In order to prevent movement of transplanted hair, I used a spray adhesive (3M) on the transplant sites (Figure 2). [idnps.com]

At fault is a genetic defect that prevents certain receptors on the surface of hair follicle cells from being correctly formed. [belgraviacentre.com]

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]