Presentation
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]
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]
The mutations in the LIPH gene, identified in the present study, include a novel homozygous splice acceptor site mutation (IVS4-1G→C). [medicaljournals.se]
Entire Body System
- Developmental Disorder
Category Skin disease Brite Human diseases [BR:br08402] Skin diseases Skin and soft tissue diseases H00786 Hereditary hypotrichosis simplex Human diseases in ICD-11 classification [BR:br08403] 14 Diseases of the skin Genetic and developmental disorders [genome.jp]
Skin
- Alopecia
Therefore, our patient’s family was referred to the National Alopecia Areata Foundation website (https://naaf.org/) for resources on discussing alopecia with school-aged children. [mdedge.com]
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]
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]
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]
L65.9 ICD-10-CM Codes Adjacent To L65.9 L63.9 Alopecia areata, unspecified L64 Androgenic alopecia L64.0 Drug-induced androgenic alopecia L64.8 Other androgenic alopecia L64.9 Androgenic alopecia, unspecified L65 Other nonscarring hair loss L65.0 Telogen [icd10data.com]
- 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]
There is receding of hair line with increasingly sparse hair on the vertex, parietal and occipital region resembling androgenetic alopecia. [5] Eyebrows, eyelashes, body hair and secondary sexual hair are sparse or absent. [ijtrichology.com]
- Sparse to No Body Hair
[…] with this more generalized HHS phenotype to chromosome 18; specifically, an Italian family with sparse 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 [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]
[…] loss disorder characterized by sparse scalp hair, sparse to absent eyebrows and eyelashes, and sparse axillary and body hair. [journals.plos.org]
Treatment
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]
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]
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]
No new safety signals were observed with treatment for up to 12 months. Treatment-related AEs. [jcadonline.com]
[…] across all treatment groups. [journals.lww.com]
Prognosis
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]
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
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]
Epidemiology
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]
Pathophysiology
[…] 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]
Prevention
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]