Kinky Hair Research Articles

The clinicopathological spectrum of preclinical folliculitis keloidalis with correlation to its dermoscopic features: a cross-sectional analytical study.

Folliculitis keloidalis (FK) is a chronic hair disorder commonly affecting males with afro-textured hair. It typically affects the nuchal area, but disease may also occur at extra-nuchal sites. Few studies have investigated the histopathological aspects of preclinical FK. In addition to the histopathology of preclinical FK, this article is the first to describe the dermoscopic features of preclinical FK at extra-nuchal sites. This study was conducted in a tertiary dermatological clinic. Twenty-eight patients with a clinical diagnosis of FK were prospectively enrolled from 2014 to 2016. Dermoscopy was used to identify features that were not evident with the naked eye (preclinical). These sites were subsequently biopsied. The clinical, dermoscopic, and histopathological features of these preclinical areas are described and correlated. Most patients suffered a chronic disease course (mean: 7.6 years) with 57.1% (n = 16) displaying extra-nuchal involvement. Dermoscopy-guided biopsy of preclinical lesions displayed perivascular dermatitis (82.1%), folliculocentric inflammation (46.3%), and fibrosis (64.3%). Novel dermoscopic findings were perifollicular scale, perifollicular erythema and pink-white areas. The perifollicular scale was associated with fibrosis on histopathology (P < 0.05). This article lends further evidence for the existence of preclinical FK and describes its histological features. For the first time, it describes the dermoscopic features of preclinical FK. Dermoscopy may therefore be a useful tool to assess disease progression and treatment response.

Disruption of TUFT1, a Desmosome-Associated Protein, Causes Skin Fragility, Woolly Hair, and Palmoplantar Keratoderma

Desmosomes are dynamic complex protein structures involved in cellular adhesion. Disruption of these structures by loss-of-function variants in desmosomal genes leads to a variety of skin- and heart-related phenotypes. In this study, we report TUFT1 as a desmosome-associated protein, implicated in epidermal integrity. In two siblings with mild skin fragility, woolly hair, and mild palmoplantar keratoderma but without a cardiac phenotype, we identified a homozygous splice-site variant in the TUFT1 gene, leading to aberrant mRNA splicing and loss of TUFT1 protein. Patients' skin and keratinocytes showed acantholysis, perinuclear retraction of intermediate filaments, and reduced mechanical stress resistance. Immunolabeling and transfection studies showed that TUFT1 is positioned within the desmosome and that its location is dependent on the presence of the desmoplakin carboxy-terminal tail. A Tuft1-knockout mouse model mimicked the patients' phenotypes. Altogether, this study reveals TUFT1 as a desmosome-associated protein, whose absence causes skin fragility, woolly hair, and palmoplantar keratoderma.

42025 Healthy Scalp is a Healthy Hair: A Clinical Approach to Kinky Hair Care Routine of Kids

42025 Healthy Scalp is a Healthy Hair: A Clinical Approach to Kinky Hair Care Routine of Kids

Non-syndromic woolly hair in a child

Non-syndromic woolly hair in a child

Development of Woolly Hair and Hairlessness in a CRISPR-Engineered Mutant Mouse Model with KRT71 Mutations.

Hypotrichosis simplex (HS) and woolly hair (WH) are rare and monogenic disorders of hair loss. HS, characterized by a diffuse loss of hair, usually begins in early childhood and progresses into adulthood. WH displays strong coiled hair involving a localized area of the scalp or covering the entire side. Mutations in the keratin K71(KRT71) gene have been reported to underlie HS and WH. Here, we report the generation of a mouse model of HS and WH by the co-injection of Cas9 mRNA and sgRNA, targeting exon6 into mouse zygotes. The Krt71-knockout (KO) mice displayed the typical phenotypes, including Krt71 protein expression deletion and curly hair in their full body. Moreover, we found that mice in 3-5 weeks showed a new phenomenon of the complete shedding of hair, which was similar to nude mice. However, we discovered that the mice exhibited no immune deficiency, which was a typical feature of nude mice. To our knowledge, this novel mouse model generated by the CRISPR/Cas9 system mimicked woolly hair and could be valuable for hair disorder studies.

Woolly Hair Nevus Associated with Sebaceous Nevus and Linear Pigmentation

Abstract The term woolly hair nevus was first described and coined in 1927 by Fred Wise. It is a nevoid condition characterized by a circumscribed patch of unruly and curled hair with an altered texture and may be associated with other nevoid conditions. This paper reports a case of a 7-year-old girl with woolly hair nevus overlying nevus sebaceous associated with linear pigmentation.

PA05 A rare case of cardiocutaneous syndrome in a young child

Abstract A 19-month-old infant came to our attention showing clinical signs consistent with focal keratoderma limited to the palms and soles, dystrophic pachyonychia of all his nails and scalp alopecia characterized by sparse curly hair. His oral cavity examination revealed periodontitis, early tooth decay and notching of the incisor teeth. The patient is the second child of a nonconsanguineous, otherwise healthy couple. No other family members were reported to have similar skin and oral alterations. Based on the characteristic appearance of his cutaneous lesions, he was investigated for a palmoplantar keratoderma disorder and was subjected to genetic testing. Results confirmed a mutation within DSP, a gene responsible for encoding the most abundant component of desmosomes, a major cell adhesion junction, particularly prominent in epidermal and cardiac tissue. Mutations in genes encoding desmosomal components are known to be associated with a broad spectrum of phenotypical alterations of skin and hair structures. The same genetic anomaly accounts for 40–50% of cases of arrhythmogenic cardiomyopathy (Pigors M, Schwieger-Briel A, Cosgarea R et al. Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy. Acta Derm Venereol 2015; 95:337–40). Despite being asymptomatic, our young patient was referred to cardiology for further investigations and surveillance. At the age of 7 years, routine electrocardiography revealed new conduction abnormalities. An echocardiogram confirmed a dilated cardiomyopathy that, combined with the previously described cutaneous and oral alterations, led to a diagnosis of cardiocutaneous syndrome. An overview of the clinical features associated with desmoplakin mutations reported in medical literature illustrates the complexity of this group of disorders and their genotype–phenotype correlations, which cannot be easily predicted. Our reported case is a paradigmatic example of diagnostic difficulties often encountered when facing concomitant dermatological and oral conditions in the same patient, emphasizing the importance of recognizing oral, dental and skin signs to be a potential risk factor for hidden cardiac diseases.

Infantile tremor syndrome masquerading as Menkes kinky hair disease with long-term follow-up

Infantile tremor syndrome masquerading as Menkes kinky hair disease with long-term follow-up

Reimagining Hair Science: A New Approach to Classify Curly Hair Phenotypes via New Quantitative Geometric and Structural Mechanical Parameters.

Hair is a natural polymeric composite primarily composed of tight macrobundles of keratin proteins, which are highly responsive to external stimuli, similarly to the hydrogels and other natural fibrous gel systems like collagen and fibrin.Hair and its appearance play a significant role in human society. As a highly complex biocomposite system, it has been traditionally challenging to characterize and thus develop personal care products. Over the last few decades, a significant societal paradigm shift occurred among those with curly hair, accepting the natural morphological shape of their curls and styling their hair according to its innate, distinct, and unique material properties, which has given rise to the development of new hair classification systems, beyond the traditional and highly limited race-based distinction (Caucasian, Mongolian, and African). L'Oréal developed a hair typing taxonomy based on quantitative geometric parameters among the four key patterns─straight, wavy, curly, and kinky, but it fails to capture the complex diversity of curly and kinky hair. Acclaimed celebrity hair stylist Andre Walker developed a classification system that is the existing gold standard for classifying curly and kinky hair, but it relies upon qualitative classification measures, making the system vague and ambiguous of phenotypic differences. The goal of this research is to use quantitative methods to identify new geometric parameters more representative of curly and kinky hair curl patterns, therefore providing more information on the kinds of personal care products that will resonate best with them and thus maximize desired appearance and health, and to correlate these new parameters with its mechanical properties. This was accomplished by identifying new geometric and mechanical parameters from several types of human hair samples.Geometric properties were measured using scanning electron microscopy (SEM), photogrammetry, and optical microscopy. Mechanical properties were measured under tensile extension using a texture analyzer (TA) and a dynamic mechanical analyzer (DMA), which bears similarity to the common act of brushing or combing. Both instruments measure force as a function of applied displacement, thus allowing the relationship between stress and applied stretch ratio to be measured as a hair strand uncurls and stretches to the point of fracture. From the resulting data, correlations were made between fiber geometry and mechanical performance. This data will be used to draw more conclusions on the contribution that fiber morphology has on hair fiber mechanics and will promote cultural inclusion among researchers and consumers possessing curly and kinky hair.

Reclassifying curls, coils, and kinks

Taking care of hair that curls is anything but straightforward. For many Black people and others with curly, coily, or kinky hair, it can be mystifying to determine which products, like shampoos and conditioners, are best suited to their particular hair. One well-known system was developed by celebrity hairstylist Andre Walker. It categorizes hair as types 1–4 (1 being straight; 2 wavy; 3 curly; and 4 kinky or coily), and subtypes A–C correspond to characteristics within hair types, like hair fineness or coarseness and curl pattern. But that isn’t an exact science. Reference images can represent a few selected categories of hair, but in reality there’s much more diversity in curly hair types. Michelle Gaines, a chemist at Spelman College, a historically Black college, knew there had to be a better way. Along with undergraduate student Imani Page and other collaborators, Gaines set out to measure more nuanced differences between

A Young Man With Recurrent Syncope

A 35-year-old man presented with recurrent syncope. On examination, wooly hair and palmoplantar hyperkeratosis were seen. Cardiac magnetic resonance imaging showed late gadolinium enhancement, and a genetic test ultimately confirmed the diagnosis of Carvajal syndrome.

A new genetic cause for woolly hair and skin fragility.

A new genetic cause for woolly hair and skin fragility.

Molecular Basis of Hereditary Hair Diseases.

The hair follicle is an appendage of the skin that undergoes hair cycles throughout life. Recently, numerous genes expressed in the hair follicles have been identified, and variants in some of these genes are now known to underlie hereditary hair diseases in humans. Hereditary hair diseases are classified into non-syndromic and syndromic forms. In the Japanese population, the non-syndromic form of autosomal recessive woolly hair, which is caused by founder pathogenic variants in the lipase H (LIPH) gene, is the most prevalent hereditary hair disease. In addition, other types of hereditary hair diseases are known in Japan, such as Marie-Unna hereditary hypotrichosis, hypohidrotic ectodermal dysplasia, and tricho-rhino-phalangeal syndrome. To ensure correct diagnoses and appropriate patient care, dermatologists must understand the characteristics of each hair disorder. Elucidation of the molecular basis of hereditary hair diseases can directly tell us which genes are crucial for morphogenesis and development of hair follicles in humans. Therefore, continuation of "wet laboratory" research for these diseases remains important. To date, several syndromic forms of hereditary hair diseases have been approved as designated intractable diseases in Japan. As part of our efforts in the Project for Research on Intractable Diseases through the Ministry of Health, Labour, and Welfare of Japan, we anticipate that more hereditary hair diseases be recognized as designated intractable diseases in the future, which will be to the benefit of the affected individuals.

Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects.

Desmosomes are complex cell junction structures that connect intermediate filaments providing strong cell-to-cell adhesion in tissues exposed to mechanical stress. To identify causal variants in individuals with woolly hair and skin fragility of unknown genetic cause. This research was conducted using whole-genome sequencing, whole-exome sequencing, clinical phenotyping, haplotype analysis, single-cell RNA sequencing data analysis, immunofluorescence microscopy and transmission electron microscopy. We identified homozygous predicted loss-of-function tuftelin-1 (TUFT1) variants in nine individuals, from three families, with woolly hair and skin fragility. One donor splice-site variant, c.60+1G>A, was present in two families, while a frameshift variant, p.Gln189Asnfs*49, was found in the third family. Haplotype analysis showed the c.60+1G>A substitution to be a founder variant in the Irish population that likely arose approximately 20 generations ago. Human and mouse single-cell RNA sequencing data showed TUFT1 expression to be enriched in the hair dermal sheath and keratinocytes. TUFT1 expression was highly correlated with genes encoding desmosomal components implicated in diseases with phenotypes that overlap with the cohort presented here. Immunofluorescence showed tuftelin-1 to be mainly localized to the peripheral cell membranes of keratinocytes in normal skin. Skin samples from individuals with TUFT1 variants showed markedly reduced immunoreactivity for tuftelin-1, with a loss of the keratinocyte cell membrane labelling. Light microscopy revealed keratinocyte adhesion, mild hyperkeratosis and areas of superficial peeling. Transmission electron microscopy showed panepidermal acantholysis with widening of intercellular spaces throughout the epidermis and desmosomal detachment through the inner plaques. Biallelic loss-of-function TUFT1 variants cause a new autosomal recessive skin/hair disorder characterized by woolly hair texture and early-onset skin fragility. Tuftelin-1 has a role in desmosomal integrity and function.

Hair Bias in the Workplace: A Critical Human Resource Development Perspective

The Problem Managers and other individuals in the workplace may have a bias, either conscious or unconscious, against Black women based on their appearance. Since slavery, Black people with lighter skin complexion and straighter hair have been given preferences and privileges not afforded Black people with darker skin or those with naturally kinky hair. This study brings this subtle form of discrimination to the attention of Human Resource Development professionals and sheds light on how such interactions may affect their learning, development, and performance. The Solution Using a critical Human Resource Development lens, we suggest that managers, organizational leaders, and decision-makers are educated to recognize and address hair bias. Leaders must ensure compliance with the CROWN Act and legislation that prohibits discrimination against natural and protective hairstyles. The Stakeholders Stakeholders include U. S. Human Resource Development professionals, hiring managers, recruiters, and leaders who are concerned with hiring and promoting diverse talent.

Spinular follicular keratosis of Siemens associated with wooly hair in two sisters: Trichoscopic description and anatomopathological correlation

Spinular follicular keratosis (SFK) is a rare X-linked inherited disorder of keratinization characterized by diffuse follicular hyperkeratosis and progressive scarring alopecia of the scalp, eyebrows, and eyelashes. Trichoscopy is a non-invasive dermatological tool that has improved the differential diagnosis of hair pathologies. In fact, dermoscopic models have been developed for several entities of scalp diseases, allowing early diagnostic confirmation and rapid action without the need for histopathology, as well as good follow-up for patients and signs of pathological activity. To date, the specific trichoscopic signs of KFSD have not been developed. Herein, we report the case of KFSD of Siemens in two sisters associated with wooly hair. We employed trichoscopy as a highly useful tool for diagnosis, then performed an anatomopathological study to confirm the diagnosis and explain the signs found on trichoscopy.

Cardiocutaneous Syndrome: Naxos Disease

Naxos disease is a recessively inherited condition, caused by mutation in genes encoding desmosomal proteins Plakoglobin. It is characterized by peculiar woolly hair, palmoplantar keratoderma with arrhythmogenic Right Ventricular dysplasia /cardiomyopathy. A syndrome (a variant of Naxos) with same cutaneous phenotype and predominant Left Ventricular involvement is CARVAJAL syndrome. Patients are at risk of sudden cardiac death due to cardiomyopathy. We herein report a rare case of Naxos disease in a 16 years old male born of a 3º consanguineous marriage, presented with features suggestive of congestive cardiac failure with clubbing (grade 1), woolly hair, and focal keratoderma over palms and soles. ECG demonstrated – inverted T waves (V1-V3), QRS prolongation and complete RBBB. Echocardiography revealed-severe biventricular dysfunction with EF-15-20%, severe MR, severe TR and PAH. Patient was treated with diuretics, ß blockers and ACE inhibitors. These children may need implantation of automatic cardioverter defibrillator to prevent arrhythmogenic attacks and sudden cardiac death. CONCLUSION: For child with woolly hair and palmoplantar keratoderma, the pediatrician should provide a cardiac assessment, considering Naxos/Carvajal disease associated cardiomyopathy. When an early diagnosis is made, life expectancy can be increased by treatment of Heart failure and arrhythmias. Keywords: Naxos disease, Palmoplantar keratoderma, Cardiomyopathy, Wolly hair

"My fleece of woolly hair that now uncurls": Shakespeare's Titus Andronicus, "Black" Hair, and the Revenge of Postcolonial Education

This essay offers a cross-historical, politically responsive reading of one line from Titus Andronicus: "My fleece of woolly hair that now uncurls" (2.3. 34). No critic, to my knowledge, has ever noticed this description as anything more than an obvious representation of its speaker's, Aaron's, racial difference; film, for its part, has either cut it from the script or kept it as an unperformed and therefore oddly inconsequential line. Specifically, what has not been explored or explained is the performative magic of a Black man straightening his kinky "black" hair in a Roman forest on an early modern stage. Addressing and drawing on the under-appreciated interdisciplinary value of a Black Studies critical consciousness, this essay argues that Aaron's hair straightening represents Shakespeare's racialization of Ovid's Metamorphoses in an effort to develop for England a liberating, pro-creative alternative to the Roman literary tradition. In this regard, Titus is an anti-colonial play, and Aaron its anti-colonial hero. And it is through the application of Ovidian magic to his hair—like the application of a poetic hot comb or hair relaxer—that Shakespeare imagines a post-colonial future for England.

Hair care and epidemiological-clinical profile of traction alopecia among women in hair salons in Yaoundé, Cameroon.

Hair is valued by all individuals especially women. The perception of beauty is specific to everyone. In order to fulfil their ideal beauty, women use various methods to modify their hair's appearance. Afro hair is particularly fragile, so using these methods can be particularly deleterious for black women's hair. Describe hair care practices of women living in Yaoundé, determine the prevalence of traction alopecia (TA) and describe its clinical profile. We carried out a cross-sectional study in hairdressing saloon in Yaoundé. A questionnaire was administered and scalp exams were performed to determine Marginal TA severity score. We included 223 women with a mean age of 24.9±7years. The prevalence of TA was 34.5%. Mild and moderate stages were most represented. As far as haircare is concerned, extensions were regularly used by 95.1% of participants. Wigs were regularly worn by 58.7% of participants. Chemical hair straightening was done by 87.9% of women and was performed twice to thrice a year by 43.9%. Almost 76% of women used hair straightener and hair dryer. Hair washing was done monthly by 43.8% of participants and the main cosmetic used was shampoo (75.3%). Traction alopecia is a very common disease in women living in Yaoundé. Extensions, wigs and shampooing are their main hair care practices.

A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies

Autosomal recessive woolly hair with hypotrichosis (ARWH), a rare genetic disorder of hair, is characterized by congenital tightly curled hair, leading to significant thinning of hair later in life (Fujimoto et al., 2012; Khan et al., 2011; Shimomura et al., 2009a, 2009b). Interestingly, many keratin-encoding gene variants have been linked to a wide range of hair, skin, and nail abnormalities (Chamcheu et al., 2011). In humans, 54 keratin genes are known, which encode proteins that are divided into two groups on the basis of their molecular properties: type I (acidic, n = 28) and type II (basic, n = 26).