Kinky Hair Research Articles

A new de novo heterozygous missense mutation in the desmoplakin gene, causing Naxos and Carvajal disease, associating oligodontia and nail fragility.

A new de novo heterozygous mutation in the desmoplakin gene, causing Naxos and Carvajal disease, has been reported in a 13-year-old Caucasian girl, with expanded clinical phenotype. In addition to woolly hair, palmoplantar keratoderma and cardiomyopathy, she had oligodontia and nail fragility. These additional clinical features may help in the diagnosis of Naxos and Carvajal disease, known to be severe on the cardiac level.

Functional investigation of two simultaneous or separately segregating DSP variants within a single family supports the theory of a dose-dependent disease severity.

Desmoplakin (DP) is an important component of desmosomes, essential in cell–cell connecting structures in stress‐bearing tissues. Over the years, many hundreds of pathogenic variants in DSP have been associated with different cutaneous and cardiac phenotypes or a combination, known as a cardiocutaneous syndrome. Of less than 5% of the reported DSP variants, the effect on the protein has been investigated. Here, we describe and have performed RNA, protein and tissue analysis in a large family where DSP c.273+5G>A/c.6687delA segregated with palmoplantar keratoderma (PPK), woolly hair and lethal cardiomyopathy, while DSP WT/c.6687delA segregated with PPK and milder cardiomyopathy. hiPSC‐derived cardiomyocytes and primary keratinocytes from carriers were obtained for analysis. Unlike the previously reported nonsense variants in the last exon of DSP that bypassed the nonsense‐mediated mRNA surveillance system leading to protein truncation, variant c.6687delA was shown to cause the loss of protein expression. Patients carrying both variants and having a considerably more severe phenotype were shown to have 70% DP protein reduction, while patients carrying only c.6687delA had 50% protein reduction and a milder phenotype. The analysis of RNA from patient cells did not show any splicing effect of the c.273+5G>A variant. However, a minigene splicing assay clearly showed alternative spliced transcripts originating from this variant. This study shows the importance of RNA and protein analyses to pinpoint the exact effect of DSP variants instead of solely relying on predictions. In addition, the particular pattern of inheritance, with simultaneous or separately segregating DSP variants within the same family, strongly supports the theory of a dose‐dependent disease severity.

Townsendialemhiensis (Asteraceae, Astereae): A narrowly endemic new species from Idaho, USA.

Townsendialemhiensis (Asteraceae) is described from the Lemhi Valley of east-central Idaho. From a genus with weak intrinsic isolating barriers, T.lemhiensis remains distinct apparently due to apomixis and to its isolation and habitat specialization on spatially limited occurrences of ashy white soils in the Lemhi Valley. Despite similarities to T.spathulata, this new species differs in its persistent pappus, fewer series of phyllaries and sericeous rather than long woolly hairs.

Afro Hair in the Time of Slavery

Treatment of European and African hair radically differed in the time of slavery: the former sentimentally preserved in mourning jewelry and keepsakes, the latter shaved off in preparation for the slave-ship hold. This essay considers some examples of how hair functioned as a racial marker. While hair texture was used to establish boundaries between races, hair styling emerged a site of racial contamination where these boundaries threatened to dissolve as white people "frizzled" their hair to make it curly, while Black people shaped their Afro hair so as to mimic the aristocratic hairstyles of white Europeans.

Twisted tressess: a rare case series of familial woolly hair

Woolly hair is an uncommon congenital anomaly of the scalp hair presenting with strongly coiled hair involving a localized area of the scalp or covering the entire side and occurring in non-black people. Among the syndromes presenting with woolly hair, the most known are the Naxos syndrome, the Carvajal-Huerta syndrome, the woolly hair/hypotrichosis, the ectodermal dysplasia-skin fragility and the tricho-hepato-enteric syndrome. Case characteristics: herein, we report a case of autosomal recessive familial woolly hair of an Asian female child and member of a family, her younger brother affected by a localised woolly hair, not associated to complications. Children with woolly hair must be examined completely and monitored regularly to rule out cardiofaciocutaneous and Noonan syndrome.

Histological Analysis for the Cause of Kinky Hair after Hair Transplantation

<i><b>Introduction:</b></i> Studies on kinky hair after hair transplantation are rare although kinky hair happens frequently. Commonly referred to in the literature as “post-transplant kinkiness,” we decided to investigate what causes kinky hair using a histologic approach. <i><b>Method:</b></i> A patient, who had a hair transplant at another clinic three years previously, came to our clinic with a complaint of low density of transplanted area. Reduction foreheadplasty was done to reduce the height of her forehead as well as to get rid of low-density parts. We collected some of the severe kinky hairs upon the removal of transplanted areas and observed them at the microscopic level. <i><b>Results:</b></i> We noted fibrotic tissues alongside the kinky hair’s follicle. In addition, distortion of the bulb was observed with the presence of fibrotic tissue at the subcutaneous layer. <i><b>Discussion:</b></i> We usually mention scarring in terms of kinky hair after transplantation. Scars in the subcutaneous layer probably cause kinky hair rather than scars in the dermis. Fibrotic tissue that forms in the subcutaneous layer presses on transplanted hair follicles and causes deformity of follicles. Growing follicles after the telogen phase are likely to be deformed by encountering scar tissue when they grow downward to enter the anagen phase. The resulting deformed bulb causes the kinky hair. Therefore, reducing tissue damage during transplantation is very important. Inflammation aggravates scar formation, so it might be helpful to lessen the factors that lead to inflammation such as infection and bleeding. <i><b>Conclusion:</b></i> Perifollicular scarring after hair transplantation causes hair follicle deformity and results in the hairs growing as kinky hair. Therefore, reducing scarring in the transplant recipient area is essential for the prevention of kinky hair.

Evaluation of hair structural abnormalities in children with different neurological diseases

Hair microscopy is a fast and effortless diagnostic method for many diseases affecting hair in daily practice. Many diseases can present with hair shaft disorders in pediatric neurology practice. Children with pathological hair findings were included in our study. Microscopic evaluation of the hair was performed under light microscopy. The clinical findings, pathological hair shaft findings, laboratory tests, and final diagnosis of the patients were evaluated. In our study, 16 patients with rare pathological hair findings were identified. Of these 16 patients, nine were diagnosed with giant axonal neuropathy, three with Griscelli syndrome, two with Menkes disease, and two with autosomal recessive woolly hair disease. In hair inspection, curly and tangled hair in patients with giant axonal neuropathy; silvery blond hair in patients with Griscelli syndrome; sparse, coarse, and light-colored hair in patients with Menkes disease; and hypotrichosis in patients with autosomal recessive woolly hair were remarkable findings. Dystrophic hair was detected in most of the patients on light microscopy. In addition, signs of trichorrhexis nodosa, tricoptylosis, and pili torti were found. In particular, pigment deposition in the hair shaft of two patients diagnosed with Griscelli syndrome and pili torti findings in two patients with Menkes disease were the most important findings suggestingthe diagnosis. Detection of hair findings in the physical examination and performing light microscopic evaluation facilitates the diagnosis of rare diseases accompanied by hair findings. A hair examination should be performed as a part of physical and neurological examinationson eachpatient regardless of thecomplaint.

Embracing Afro hair, resisting colourism: Black women’s experiences in North Cyprus

ABSTRACT This paper takes the intersectional domains of power framework to examine Black Cypriot women’s experiences with Afro hair in a community where black colour, hair, and features are othered. This paper draws particular attention to the interpersonal and cultural domains of power. We examine how hair prejudice has endured within families and in the Turkish Cypriot community by focusing on space and time differences. We compare the experiences of five women who were born in the 1950s, 1960s, and 1980s. We aim to connect the history of slavery and colonialism to show how the unique experiences of Black women in Cyprus are also tied to global racism.

Woolly hair nevus caused by somatic mutation and Costello syndrome caused by germline mutation in HRAS: Consider parental mosaicism in prenatal counseling

Germline mutations in HRAS cause Costello syndrome (CS), while mosaic mutations in HRAS show a variability of phenotypes, ranging from mild features such as keratinocytic epidermal nevus (KEN), sebaceous nevus (SN), woolly hair nevus (WHN) with KEN, to severe manifestations of CS with cutis laxa. We report two individuals. The first was a 2-year-old boy with woolly hair nevus (WHN) without any other cutaneous involvement, in whom somatic HRAS mutation (c.34G>A; p.Gly12Ser) was identified in his affected scalp and hair follicle specimens. This is the first reported WHN type 1 (no cutaneous involvement) patient caused by somatic HRAS mutation. The other individual was a 12-year-old girl with CS caused by germline HRAS mutation (c.34G>A), that manifested with coarse face, palmoplantar keratoderma, deep palmar and plantar creases, hyperpigmented patches, asymmetry and deformity of lower limbs, atopic dermatitis, as well as mental retardation. Of note, a linear hyperpigmented plaque was observed in her father's lumbosacral region. Although the father refused to provide semen and skin tissue for further examination, this reminds us of possible mosaicism in parents of individuals with germline de novo HRAS mutation and underlines the importance of parental evaluation for prenatal counseling.

Review: Sister Style: The Politics of Appearance for Black Women Political Elites, by Nadia E. Brown and Danielle Casarez Lemi

Book Review| October 01 2021 Review: Sister Style: The Politics of Appearance for Black Women Political Elites, by Nadia E. Brown and Danielle Casarez Lemi Sister Style: The Politics of Appearance for Black Women Political Elites, by Nadia E. Brown and Danielle Casarez Lemi. New York: Oxford University Press, 2021. 234 pages. 10 black and white illustrations (color online). $27.95 (paper). ISBN: 9780197540589. Dara Gaines Dara Gaines Northwestern University Search for other works by this author on: This Site PubMed Google Scholar National Review of Black Politics (2021) 2 (3-4): 219–222. https://doi.org/10.1525/nrbp.2021.2.3-4.219 Views Icon Views Article contents Figures & tables Video Audio Supplementary Data Peer Review Share Icon Share Twitter LinkedIn Tools Icon Tools Get Permissions Cite Icon Cite Search Site Citation Dara Gaines; Review: Sister Style: The Politics of Appearance for Black Women Political Elites, by Nadia E. Brown and Danielle Casarez Lemi. National Review of Black Politics 1 October 2021; 2 (3-4): 219–222. doi: https://doi.org/10.1525/nrbp.2021.2.3-4.219 Download citation file: Ris (Zotero) Reference Manager EasyBib Bookends Mendeley Papers EndNote RefWorks BibTex toolbar search Search Dropdown Menu toolbar search search input Search input auto suggest filter your search All ContentNational Review of Black Politics Search In Sister Style: The Politics of Appearance for Black Women Political Elites, Nadia Brown and Danielle Lemi foreground the intersectional political perspective of Black women and interrogate the cultural, social, and political implications of afro-textured hair and skin tone. An innovative contribution, Sister Style reevaluates the quotidian sociopolitical context of Black women political elites and voters. Brown and Lemi convincingly demonstrate the impact of racialized gender identity on the political experiences of Black women politicians. Through their focus on “reclaiming agency and subjectivity” (11) for the Black female body, Brown and Lemi advance an intersectional analytical framework designed to interpret both voter and candidate interpretations of Black women politicians. Sister Style contends with the reality of intragroup stigma related to skin tone and natural hair and provides a thoughtful analysis of Black sociocultural institutions. Sister Style is a powerfully compelling, transformative text that will prove instructive to academics and... You do not currently have access to this content.

Black Internationalism as “I and I” Praxis

Black Internationalism as “I and I” Praxis

Newborn with Failure to Thrive and Diarrhea.

Newborn with Failure to Thrive and Diarrhea.

Tricho-hepato-enteric syndrome: Retrospective multicenter experience in Saudi Arabia.

Background:Trichohepatoenteric syndrome (THES) is a very rare disorder that is characterized by intractable congenital diarrhea, woolly hair, intrauterine growth restriction, facial dysmorphism, and short stature. Our knowledge of THES is limited due to the small number of reported cases.Methods:Thirty patients diagnosed with THES, all molecularly confirmed by whole exome sequencing (WES) to have biallelic variants in TTC37 or SKIV2L, were included in the study. Clinical, biochemical, and nutritional phenotypes and outcome data were collected from all participants.Results:The median age of THES patients was 3.7 years (0.9–23 years). Diarrhea and malnutrition were the most common clinical features (100%). Other common features included hair abnormalities (96%), skin hyperpigmentation (87%), facial dysmorphic abnormalities (73%), psychomotor retardation (57%), and hepatic abnormalities (30%). Twenty-five patients required parenteral nutrition (83%) with a mean duration of 13.34 months, and nearly half were eventually weaned off. Parenteral nutrition was associated with a poor prognosis. The vast majority of cases (89.6%) had biallelic variants in SKIV2L, with biallelic variants in TTC37 accounting for the remaining cases. A total of seven variants were identified in TTC37 (n = 3) and SKIV2L (n = 4). The underlying genotype influenced some phenotypic aspects, especially liver involvement, which was more common in TTC37-related THES.Conclusion:Our data helps define the natural history of THES and provide clinical management guidelines.

Isolated autosomal recessive woolly hair/hypotrichosis: genetics, pathogenesis and therapies.

Isolated autosomal recessive woolly hair/hypotrichosis (ARWH) is a rare hereditary hair disease characterized by tightly curled sparse hair at birth or in early infancy. Patients with ARWH consist of genetically heterogeneous groups. Woolly hair autosomal recessive 1 (ARWH1) (MIM #278150), woolly hair autosomal recessive 2 (ARWH2) (MIM #604379) and woolly hair autosomal recessive 3 (ARWH3) (MIM #616760) are caused by mutations in LPAR6, LIPH and KRT25, respectively. In addition, nonsense variants in C3ORF52 (*611956) were identified in ARWH patients. The frequencies of the mutations in the causative genes in ARWH patients are thought to differ by ethnicity and country/geographical area. Large numbers of ARWH families with LIPH mutations have been described only in populations from Japan, Pakistan and the Volga-Ural region of Russia. In that region of Russia, most ARWH families have an extremely prevalent founder mutation, the deletion of exon 4, in LIPH. In the Pakistani population, 47.2% of ARWH families had the disease due to LIPH mutations and 52.8% of them carried LPAR6 mutations. The prevalent, recurrent LIPH mutation c.659_660delTA (p.Ile220Argfs*29) was found in more than half of Pakistani ARWH families with LIPH mutations. Most Japanese ARWH families (98.7%) harbour LIPH mutations, including the two highly prevalent, recurrent LIPH mutations c.736T>A (p.Cys246Ser) and c.742C>A (p.His248Asn). In ARWH patients whose disease was due to LIPH, LPAR6 or C3ORF52 mutations, the loss of function of LIPH, LPAR6 or C3ORF52 leads to reduced LIPH-LPA-LPAR6 signalling, resulting in the decreased transactivation of EGFR signalling and the phenotype of underdeveloped hairs. Our recent prospective interventional study suggests that topical minoxidil might be a promising treatment for ARWH due to LIPH mutations, although sufficiently effective treatments have not been established for ARWH yet.

Treating Afro hair loss: signs, symptoms and specialist interest

This article explores the different types of hair loss that black women may experience more than other groups of patients. Properties of African hair and the impact of hair care practices are discussed, as well as factors affecting the presentation of other hair loss conditions.It is important for the aesthetic practitioner to be able to distinguish between the temporary forms of hair loss that they can help to treat and the permanent or scarring forms of hair loss, which need a prompt referral to a dermatologist with a specialist interest in hair. Prompt recognition and referral can help to delay the progression of hair loss.The symptoms and signs that patients and practitioners should be alerted to are explored, as well as the treatments that can help and where referrals may be necessary. Recent developments and gaps in knowledge are summarised.

Afro Love: counter-literacies in Brazilian natural hair communities

ABSTRACT This study explores afro hair as a central component of transnational anti-Black and Black-empowering literacy construction. It argues that Black women in São Paulo City, Brazil, constructed Afro Love Counter-Literacies that were Black-empowering by embracing afro hair. Scholarship on Black feminism, racial literacies, and critical literacies guided the narrative analysis. The findings highlight two interworking mechanisms of Afro-Love Counter-Literacies: (1) alfabetização afro, which refers to languaging, caring for, and styling afro hair; and (2) letramento afro, which describes the development of affirmative beliefs about afro hair. Participants drew upon these literacies to (re)read and (re)write the world through an afro-affirming Black feminist lens.

Material Intimacies and Black Hair Practice: Touch, Texture, Resistance

ABSTRACT This article explores the socio-materiality of Black hair care practice as an affective surface through which we can understand Black women’s experiences of intimacy and belonging. Texture of hair has often been overlooked in the examination of racialized presentation, even as shade or skin colour has been over-determined. By paying attention to the centrality of touch in negotiating grooming practices in Black hair care, a multi-layered appreciation of the material entanglements in Black intimacies can be explored. Hair is more than part of the body, it is both highly visible, as well as intensely personal and political in terms of the ways it is worn and seen by the observer. Drawing on a sensory ethnography of Afro hair salons in the UK and biographical narrative analysis, this article explores Black women’s relationships with their hair in everyday life, alongside a parallel reading of the classic text “Cassie’s hair” by Susan Bordo. This layering of narratives allows for a new form of listening to emerge, an attunement that forefronts the habitual practices of hair dressing and hair making as ways of “becoming black”. In every twist, braid and weave, these biographies highlight the intimate entanglements by which the ambivalence of black belonging is negotiated. Touch in particular, both nurturing and hostile, represents an important socio-cultural ritual through which collective belonging is experienced: evoking memories of inter-generational and transnational intimacies with black communities in another time and another place. This paper offers a novel way of reimagining the role of affect in understanding collective intimacies and sustaining black identity in diasporic contexts.

Quantifying the impact of braiding and combing on the integrity of natural African hair.

Afro hair breakage is most commonly attributed to grooming practices such as braiding, hair extensions and weaves, both for chemically treated hair and natural Afro hair. These grooming practices are also frequently associated with traction alopecia in clinical studies. However, there is little to no quantitative scientific data on the surface and internal hair fibre damage caused by grooming, including combing, on Afro hair. Qualitative and quantitative techniques such as scanning electron microscopy, cuticle cohesion and tensile testing were used to determine the effects of frequent braiding on the integrity of female Afro hair in 15 frequent braiders and 15 occasional braiders (control group) in Johannesburg, South Africa. Frequent braiders were women who braided more than 8 times per year, while occasional braiders typically limit braiding to only twice 2 per year. The severity of traction alopecia was quantified in both groups using the standard Marginal Traction Alopecia Scoring system. Surface damage on naturally curly Afro hair, that was combed but not braided, was assessed as another hairstyle option. All measurements showed a relationship between surface and internal hair fibre damage and braiding frequency. Frequent braiders had thinner hair, with more cuticle damage as shown by SEM and cuticle cohesion assessments. Their hair fibres were also significantly weaker (p<0.05), as shown by the tensile testing. In addition, they also had higher traction alopecia severity scores. In the combing impact assessment, a linear trend was observed between surface hair fibre damage and the number of combing strokes. Cuticle damage from 480 combing strokes was more severe than that from frequent braiding. Frequent braiding and combing damage natural Afro hair. Quantification of damage caused by different grooming practices identifies a need to develop products that could help mitigate specific hair damage associated with grooming practices. The degree of damage and subsequent hair loss could also be minimized by education on best braiding practices to protect the hair fibre and avoid hair follicle miniaturization caused by high traction hairstyles.

The art of prevention: It's too tight-Loosen up and let your hair down.

Traction alopecia is prevalent in patients of color. Its significance in clinical practice may be underemphasized due to the transient nature of the condition; however, it has the potential to become permanent and cause significant psychosocial distress. Understanding of afro-textured hair and cultural practices, as well as early recognition and treatment, provides an opportunity to prevent permanent traction alopecia and long-term sequelae.

Trichohepatoenterický syndrom u pacienta s mutacemi genu TTC37 – kazuistika

We report a patient with somatic retardation and woolly hair appearance who suffered from recurring episodes of watery mucous diarrhea, impaired liver functions, and failure to thrive. He manifested with severe infection courses, including hepatitis of unknown origin complicated by liver failure at 4 months, bronchopneumonia at 4 years, and life-threatening sepsis with septic shock at 8 years of age. Esophagogastroduodenoscopy and colonoscopy were performed at 4 years to rule out inflammatory bowel disease (IBD), and only signs of nonspecific colitis were evident. Immunology workup revealed slight reduction in CD4+ naive subsets and impaired T cell response to mitogens. Massive parallel sequencing (also termed next-generation sequencing – NGS) targeting a panel of primary immunodeficiency-related genes was used to examine the patient’s DNA. NGS analysis revealed two heterozygous variants in the TTC37 gene. Nonsense p.Arg1201* and missense p.Leu1505Ser variants in exons 34 and 42, respectively, were evaluated as pathogenic based on in silico predictions, their rare occurrence in the general population, and the fact that both mutations had already been described in patients with trichohepatoenteric syndrome (THES). As clinical features in our patient were in accordance with this diagnosis, we consider our findings as causative. THES could be a life-threatening condition, particularly in children who develop liver disease or severe infection courses. THES can have a similar clinical presentation as does very early-onset inflammatory bowel disease (VEO-IBD) and is often assigned to this group. Although IBD is generally regarded as a polygenic disease, some children with VEO-IBD are known also to have diseases with monogenic etiologies, as in THES. Targeted NGS is an efficient tool for establishing an accurate dia gnosis in VEO-IBD patients.