Infantile Neurodegeneration and Hair Changes: A Rare Case of Menkes Disease

A 4-month-old, previously healthy boy presented with acute onset of prolonged, recurrent seizure activity followed by neurodevelopmental deterioration and concurrent hair shaft hypopigmentation with fragility. Initial evaluation revealed significant low serum copper and ceruloplasmin, electrical status epilepticus on electroencephalography, and generalized subcortical white matter changes with diffuse tortuosity of intracranial vessels on MRI brain. In addition, a genetic study with whole-genome sequencing demonstrated a hemizygous pathogenic variant at c.2179G>A p(Gly727Arg) on ATP7A, thereby confirming the diagnosis of Menkes disease. Symptomatic treatment with antiepileptic medications was provided along with an urgent referral to an advanced center for multidisciplinary care and copper histidine replacement therapy.

Tectoridin Stimulates the Activity of Human Dermal Papilla Cells and Promotes Hair Shaft Elongation in Mouse Vibrissae Hair Follicle Culture

To search hair growth-promoting herbal extract, a screening platform of having HEK293T fibroblast being transfected with pTOPFLASH DNA construct was developed over a thousand of herbal extracts and phytochemicals were screened. One of the hits was ethanolic extract of Rhizoma Belamcandae, the rhizome of Belamcanda chinensis (L.) DC. Tectoridin, an isoflavone from Rhizoma Belamcandae, was shown to be responsible for this activation of promoter construct, inducing the transcription of pTOPFLASH in the transfected fibroblasts in a dose-dependent manner. The blockage by DKK-1 suggested the action of tectoridin could be mediated by the Wnt receptor. The hair growth-promoting effects of tectoridin were illustrated in human follicular dermal papilla cells and mouse vibrissae organ cultures. In tectoridin-treated dermal papilla cultures, an activation of Wnt signaling was demonstrated by various indicative markers, including TCF/LEF1 transcriptional activity, nuclear translocation of β-catenin, expressions level of mRNAs encoding axin-related protein, (AXIN2), β-catenin, lymphoid enhancer-binding factor-1 (LEF-1), insulin-like growth factor 1 (IGF-1) and alkaline phosphatase (ALP). In addition, an increase of hair shaft elongation was observed in cultured mouse vibrissae upon the treatment of tectoridin. Tectoridin, as well as the herbal extract of Rhizoma Belamcandae, possesses hair promoting activity, which deserves further development.

Hair Cosmetics for the Hair Loss Patient

Medical professionals that treat patients with alopecia usually lack knowledge about hair cosmetics. Trichologists focus on hair cycling and growth problems and not on the hair shaft integrity. This may lead to abandon of the use of the prescribed treatment, such as topical minoxidil or to inadequate traumatic grooming habits that may jeopardize hair follicle health. Shampoos, hair dyes, and hair-straightening products may alter hair fiber structure, remove lipids, and elude protein. Hair procedures such as hair dying and straightening have side effects and health concerns, especially for pregnant women or sensitive hair and scalp patients. Hair breakage, follicle traction, frizz, contact dermatitis, and mutagenicity are possible side effects of hair cosmetics misuse. The proper use of hair care products may help to increase patients' adherence to alopecia treatments and avoid health problems related to inadequate application of hair cosmetics and procedures.

The clinical study of dermatophytosis in a tertiary care hospital of konkan region, Maharashtra

Dermatophytes are aerobic fungi that produce proteases that digest keratin and allows colonization, invasion and infection of the stratum corneum of the skin, the hair shaft, and the nail. This study was an attempt on the part of the author to find out the incidence and various clinico-epidemiological characteristics of Dermatophytosis in skin OPD of Tertiary care Hospital, B.K.L.W.R.M.C., Dervan. The study was carried on 2444 patients of Dermatophytosis attending the OPD, out of which 49.79% of the cases were Tinea Cruris (TC). The age group of 11-20 years showed maximum prevalence of Dermatophytosis (22.17%). 58% of the patients had diffuse lesions. Body involvement was seen in 87% of cases. Itching was the most common condition associated with Dermatophytosis. 35% of the patients reported with family history of Tinea Cruris.Circumscribed variety of TC was found to be most common variant mostly observed in 2and 4 decade, with a male preponderance. Groin was the most common site with multiple lesions. Nail changes was most commonly associated with TC.

A Hairy Cituation – PADIs in Regeneration and Alopecia

In this Review article, we focus on delineating the expression and function of Peptidyl Arginine Delminases (PADIs) in the hair follicle stem cell lineage and in inflammatory alopecia. We outline our current understanding of cellular processes influenced by protein citrullination, the PADI mediated posttranslational enzymatic conversion of arginine to citrulline, by exploring citrullinomes from normal and inflamed tissues. Drawing from other stem cell lineages, we detail the potential function of PADIs and specific citrullinated protein residues in hair follicle stem cell activation, lineage specification and differentiation. We highlight PADI3 as a mediator of hair shaft differentiation and display why mutations in PADI3 are linked to human alopecia. Furthermore, we propose mechanisms of PADI4 dependent fine-tuning of the hair follicle lineage progression. Finally, we discuss citrullination in the context of inflammatory alopecia. We present how infiltrating neutrophils establish a citrullination-driven self-perpetuating proinflammatory circuitry resulting in T-cell recruitment and activation contributing to hair follicle degeneration. In summary, we aim to provide a comprehensive perspective on how citrullination modulates hair follicle regeneration and contributes to inflammatory alopecia.

Not So Uncommon Cause of Foot Pain: Cutaneous Hair Splinter of the Sole

<b><i>Introduction:</i></b> A fragment of hair penetrating the skin has been referred to as cutaneous pili migrans in the literature. The condition is regarded rare and the cause unknown. <b><i>Case Presentation:</i></b> A 55-year-old female experienced painful sensations of the sole. Dermoscopy revealed hair fragments penetrating the skin, and histopathology a hair shaft embedded in the stratum corneum. The hairs were mechanically extracted with immediate relief from the pain. <b><i>Discussion and Conclusion:</i></b> Hair splinters of the sole may be a cause of foot pain related to the skin. The hair splinter is yet another form of hair that has embedded itself in the skin. Patients may believe the hair is growing out of the feet, while the soles are among the specialized skin regions that are hairless. The origin of the hair is exogenous and related to an exposure to freshly cut human or animal hair. Cutaneous embedded hairs can be classified based on the clinical presentation, the location, and association with hair follicles into hair splinters, interdigital pilonidal sinus, migrating hair, or ingrown hair. The condition is an important cause of foot pain and should be considered on clinical examination of the skin of the soles.

Independent DSG4 frameshift variants in cats with hair shaft dystrophy

Investigations of hereditary phenotypes in spontaneous mutants may help to better understand the physiological functions of the altered genes. We investigated two unrelated domestic shorthair cats with bulbous swellings of the hair shafts. The clinical, histopathological, and ultrastructural features were similar to those in mice with lanceolate hair phenotype caused by loss-of-function variants in Dsg4 encoding desmoglein 4. We sequenced the genomes from both affected cats and compared the data of each affected cat to 61 control genomes. A search for private homozygous variants in the DSG4 candidate gene revealed independent frameshift variants in each case, c.76del or p.Ile26fsLeu*4 in case no. 1 and c.1777del or p.His593Thrfs*23 in case no. 2. DSG4 is a transmembrane glycoprotein located primarily in the extracellular part of desmosomes, a complex of adhesion molecules responsible for connecting the keratin intermediate filaments of neighbouring epithelial cells. Desmosomes are essential for normal hair shaft formation. Both identified DSG4 variants in the affected cats lead to premature stop codons and truncate major parts of the open-reading frame. We assume that this leads to a complete loss of DSG4 function, resulting in an incorrect formation of the desmosomes and causing the development of defective hair shafts. Together with the knowledge on the effects of DSG4 variants in other species, our data suggest that the identified DSG4 variants cause the hair shaft dystrophy. To the best of our knowledge, this study represents the first report of pathogenic DSG4 variants in domestic animals.