Clinical and mutation analysis of a case of Noonan-like syndrome with loose anagen hair / 中华皮肤科杂志

To report a case of Noonan-like syndrome with loose anagen hair, and to detect gene mutations in the family. A 3-year-old female patient presented with a special facial appearance, short stature, deep palmar and plantar creases, and dark skin. The scalp hair was sparse and thin, dermoscopy showed black spot sign, single-hair follicular units, hair shafts varying in the diameter, upright hair and new vellus hair, and constriction of hair shafts and nodular hair were occasionally observed. Peripheral blood samples were collected from the proband and her parents, and the genomic DNA was extracted for whole-exome sequencing. A heterozygous missense mutation c.4A>G was identified in exon 2 of the SHOC2 gene in the proband, resulting in the substitution of serine by glycine at amino acid position 2 (p.S2G) . The mutation was not identified in either of her parents. Combined with the clinical phenotype and gene mutation, the diagnosis of Noonan-like syndrome with loose anagen hair was confirmed.

Discovery and molecular analysis of conserved circRNAs from cashmere goat reveal their integrated regulatory network and potential roles in secondary hair follicle

Background: Circular RNAs, a novel class in the eukaryotic transcriptome, are characterized by the 3' and 5' ends that are covalently joined in a covalently closed loop without free ends. Circular RNAs are considerably stable molecules and act as microRNA sponges with regulatory potential to the protein-coding genes. Results: Eight circular RNAs were found to be significantly upregulated at anagen skin tissue of cashmere goat compared with their counterparts at telogen. Rich and complex regulatory patterns were revealed among the eight upregulated circular RNAs at anagen and related miRNAs with their potential regulatory genes. The potential regulatory genes of eight upregulated circular RNAs at anagen were involved in several pathways related to the main physiological process of hair follicle, such as histone acetylation and axon. For chi_circ_1926, chi_circ_3541, chi_circ_0483, chi_circ_3196, and chi_circ_2092, overall, the relative expression in secondary hair follicle exhibited highly similar trends with their corresponding host genes during the different stages of the hair follicle cycle. However, the expression trends of chi_circ_0100, chi_circ_2829, and chi_circ_1967 were found to diverge from their corresponding host genes during the different stages of the hair follicle cycle. Conclusions: A total of eighteen circular RNAs were identified and characterized from skin tissue of cashmere goat. The eight upregulated circular RNAs at anagen might have significant roles in the secondary hair follicle of cashmere goat. Our results would provide a novel regulatory layer to elucidate the molecular mechanisms underlying the development of secondary hair follicle and the growth of cashmere fiber in cashmere goat.

Anti-tuberculosis Drugs-induced Anagen Effluvium with Generalized Drug Eruption / 대한피부과학회지

Anagen effluvium is an abrupt loss of hair in its growing phase due to an event that impairs the mitotic or metabolic activity of the hair follicle. Anagen effluvium is commonly associated with the administration of chemotherapy, radiation, and drugs as well as exposure to toxic chemicals. However, alopecia due to the administration of anti-tuberculosis drugs has rarely been reported in the literature. A 50-year-old female was diagnosed with intestinal tuberculosis and was started on anti-tuberculosis therapy with isoniazid, rifampicin, ethambutol, and pyrazinamide. After starting the treatment, erythematous to brown patches appeared all over her body, which was followed by diffuse hair loss on the scalp and body. Hair examination showed intact inner and outer root sheaths with fully pigmented hair bulbs, and histopathological examination of a scalp biopsy showed vacuolar degeneration in the interfollicular epidermis and perifollicular infiltration of mononuclear cells and eosinophils. The condition was diagnosed as anagen effluvium with drug eruption, and a potent corticosteroid lotion was prescribed for scalp application twice a day. After complete hair loss, the anti-tuberculosis medications were withdrawn, and hair regrowth started 4 months later. Here, we report a rare case of anagen effluvium with generalized drug eruption due to anti-tuberculosis medication.

El pelo: generalidades y enfermedades más comunes / Hair: its generalities and most common diseases

Resumen Las patologías del pelo reciben poca atención durante la formación del médico general, pero al tener alta prevalencia en la práctica clínica es importante considerar los principios básicos del crecimiento del pelo y las patologías más comunes que lo afectan, para llegar a un diagnóstico y un tratamiento correcto en cada situación.

Abstract Hair pathology is often overlooked during undergraduate medical training, however because of its high prevalence in the clinical practice it is important to know the basic principles of hair growth and the most frequent pathologies that afflict this structure and how to make an adequate diagnosis and treatment for each patient.

Effect of miR-125b on dermal papilla cells of goat secondary hair follicle

Background: MicroRNAs (miRNAs) are endogenous noncoding RNAs that regulate various biological processes. miR-125b is a miRNA that has been reported to be critical for hair follicle (HF) morphogenesis and development. We identified that the expression of miR-125b varies during an individual hair cycle (anagen, catagen, and telogen) in the skin of cashmere goats. We constructed a gain model (by overexpressing miR-125b) and a loss model (by inhibiting endogenous miR-125b) based on dermal papilla cells (DPCs) to further investigate the role of miR-125b in HF cycle. In addition, we used a dual-luciferase system to highlight the predicated target genes of miR-125b. Results: We found that miR-125b affects the expression of FGF5, IGF-1, SHH, TNF-α, MSX2, LEF-1, FGF7, NOGGIN, BMP2, BMP4, TGF-ß1, and ß-catenin. The dual-luciferase assay further validated a direct interaction between miR-125b and FGF5 and TNF-α. Conclusion: miR-125b affects the expression levels of genes related to hair cycle and may also play a critical role in regulating the periodic development of HF.

Anagen effluvium secondary to Gloriosa superba ingestion.

Anagen effluvium, the shedding of anagen hair, leads to diffuse non-scarring alopecia. We report two cases of anagen effluvium in the same family secondary to the ingestion of tubers of Gloriosa superba, which contains the antimitotic alkaloid colchicine. Both patients developed anagen effluvium and gastroenteritis 1–2 weeks after consuming the tubers. In addition, one of them had bicytopenia, pleural effusion, hematuria and altered liver function tests. Both were managed conservatively and counseled regarding the reversible nature of the hair loss. Follow‑up at 3 months showed regrowth of hair in both the cases.

Synthesis of dialkylaminoaryl phosphonate bioisosteres of tyrosine and tyramine: a novel application of allene phosphonate chemistry for the synthesis of false substrates of tyrosinase.

Tyrosinase is the rate-limiting oxidase in the synthesis of melanin, making it an obvious target for the treatment of melanotic melanomas. Tyrosine and tyramine are its natural substrates, but many of their derivatives are inhibitors or false substrates, and are therefore prime candidates for melanoma chemotherapy. A series of dialkylphosphonate derivatives of tyramine have now been synthesized in order to extend the chemical diversity of tyrosinase substrates. The known reactivity between alkenephosphonates and nucleophiles was exploited by the addition of 4-(2-aminoethyl)phenol (tyramine) across the 2,3-double bond of 1,2-alkadiene phosphonates, to obtain the desired bisphosphonate derivatives. These reactions were highly chemoselective and regioselective but not stereoselective. Five of the reported novel dialkylphosphonate aminophenols were substrates for mushroom tyrosinase in vitro: dimethyl 2-[2(4-hydroxyphenyl)ethylamino]-3-methyl-1-butenephosphonate (3);diethyl 2-[2(4-hydroxyphenyl)ethylamino]-3-methyl-1-butenephosphonate (4);dimethyl 2-[2-(4- hydroxyphenyl)ethylamino]-2-cyclohexyl-1-ethenephosphonate (5);diethyl 2-[2-(4-hydroxyphenyl)ethylamino]- 2-cyclohexyl-1-ethenephosphonate (6);diethyl 2-[2-(4-hydroxyphenyl)ethylamino]ethanephosphonate (7). Compound 3 blocked the pigmentation of anagen hair in vivo in a murine animal model, a further demonstration that these compounds are able to enter and disrupt the melanogenic pathway.

Dermatological adverse reactions to cancer chemotherapy.

The new targeted anticancer drugs as well as the older traditional chemotherapy agents are associated with adverse effects on skin, hair, nails and mucosa. These toxic effects can cause great distress to the patient leading to decreased quality of life and interruption in treatment. Aims: To study the mucocutaneous adverse effects of both single and combined chemotherapy regimens in cancer patients. Materials and Methods: We studied 53 cancer patients attending the oncology outpatient department or those admitted in the oncology ward of Father Muller Medical College Hospital, Mangalore between October 2012 and September 2013. The adverse effects of chemotherapy on skin, hair, nails and mucosa were noted. Results: The most common adverse effects observed in the study were nail changes in 33 (62.2%) patients, followed by hair changes in 20 (37.7%) patients, skin changes in 19 (33.9%) patients, and mucosal changes in 2 (3.7%) patients. The skin changes were acneiform rash in 5 (27.7%) patients, xerosis in 4 (22.2%) patients, hyperpigmentation in 4 (22.2%) patients, and toxic epidermal necrolysis, hand foot syndrome, extravasation, erythema nodosum, and supravenous hyperpigmentation in 1 patient each. The most common nail fi nding was melanonychia seen in 26 (78.7%) patients. Hair changes were in the form of anagen effl uvium seen in 20 (37.7%) patients. Mucosal changes seen were pigmentation of tongue and stomatitis in one case each. Limitations: Sample size is small. Conclusions: While these side effects are generally not life-threatening, they can be a source of signifi cant morbidity. Knowledge about the adverse effects of anti-cancer drugs will help in accurate diagnosis and management, thereby improving the quality of life.

Comments to "Alopecia Areata in a Patient Treated with Interferon Alpha-2a for Chronic Hepatitis B" / 대한피부과학회지

No abstract available.

Anagen effluvium.

Disturbances of hair follicle cycling lie at the heart of most hair growth disorders, and have dramatic effects on visible hair growth and shedding. The two common disorders due to aberration in hair follicle cycling are telogen and anagen effluvium. Though a lot of literature addresses the problem of telogen effluvium, there are not many reviews on anagen effluvium or anagen hair loss. Anagen effluvium is considered synonymous with chemotherapy-induced alopecia and other causes are rarely considered. In this review, we try to discuss the etiopathogenesis, clinical presentation, differentials, and management issues in anagen effluvium. Anagen effluvium is the abrupt loss of hairs that are in their growing phase (anagen) due to an event that impairs the mitotic or metabolic activity of hair follicle. Chemotherapy, radiation and toxic chemicals, and sometimes inflammatory diseases like alopecia areata and pemphigus are also capable of diminishing the metabolic activity of hair follicles resulting in anagen hair loss. Although it is reversible, and hair regrowth occurs after a delay of 1-3 months; sometimes it can lead to permanent alopecia and can be psychologically devastating with negative impact on individual perceptions of appearance, body image, sexuality, and self-esteem. For some patients, the emotional trauma may be so severe that it may lead to discontinuing or refusing therapy that might otherwise be beneficial. In such cases, a psychosomatic approach as well as empathic consideration of the patients concerns and fears as well as the provision of practical medical-aesthetic and styling tips are equally important and can be integrated in management.

Action Mechanism of Chamaecyparis obtusa Oil on Hair Growth

This study was carried out to examine the action mechanism of Chamaecyparis obtusa oil (CO) on hair growth in C57BL/6 mice. For alkaline phosphatase (ALP) and gamma-glutamyl transpeptidase (gamma-GT) activities in the skin tissue, at week 4, the 3% minoxidil (MXD) and 3% CO treatment groups showed an ALP activity that was significantly higher by 85% (p < 0.001) and 48% (p < 0.05) and an gamma-GT activity that was significantly higher by 294% (p < 0.01) and 254% (p < 0.05) respectively, as compared to the saline (SA) treatment group. For insulin-like growth factor-1 (IGF-1) mRNA expression in the skin tissue, at week 4, the MXD and CO groups showed a significantly higher expression by 204% (p < 0.05) and 426% (p < 0.01) respectively, as compared to the SA group. At week 4, vascular endothelial growth factor (VEGF) expression in the MXD and CO groups showed a significantly higher expression by 74% and 96% (p < 0.05) respectively, however, epidermal growth factor (EGF) expression in the MXD and CO groups showed a significantly lower expression by 66% and 61% (p < 0.05) respectively, as compared to the SA group. Stem cell factor (SCF) expression in the MXD and CO groups was observed by immunohistochemistry as significant in a part of the bulge around the hair follicle and in a part of the basal layer of the epidermis. Taking all the results together, on the basis of effects on ALP and gamma-GT activity, and the expression of IGF-1, VEGF and SCF, which are related to the promotion of hair growth, it can be concluded that CO induced a proliferation and division of hair follicle cells and maintained the anagen phase. Because EGF expression was decreased significantly, CO could delay the transition to the catagen phase.

A 10-Year Retrospective Review of Non-Scarring Alopecia in a Tertiary Hospital in Malaysia

Background Non-scarring alopecia is a common hair disorder with paucity of clinical reviews. Objectives We aim to study the spectrum of non-scarring alopecia, its’ demographic, clinical and treatment pattern among patients at University Malaya Medical Centre. Methodology We have retrospectively reviewed the demography, clinical characteristics and treatment of non-scarring alopecia at University Malaya Medical Centre (UMMC). A total of 154 records were reviewed. Results A majority of patients had alopecia areata (28.6%), followed by androgenetic alopecia (12.3%), telogen effluvium (3.2%), tineacapitis (2.6%) and unspecified hair loss (53.2). Treatment for alopecia areata included topical steroids (53.3%), intralesional steroids (26.7%), topical minoxidil (17.8%), oral steroids (11.1%), oral finasteride (2.2%) and oral azathiopine (2.2%). Prescribed treatment for androgenetic alopecia comprised of topical minoxidil (68.1%) or oral finasteride (10.5%). Conclusion We concluded that alopecia areata was the most common cause of nonscarring alopecia diagnosed at UMMC and deduced that the high number of patients diagnosed with unspecified hair loss was attributed to the lack of confidence amongst out-patient physicians in diagnosing the cause of alopecia.

Caracterización del tricograma en pacientes chilenos / Characterization of trichogram in Chilean patients

Introducción: El tricograma consiste en extraer pelos del cuero cabelludo que luego son examinados mediante un microscopio para determinar qué porcentaje de éstos se encuentra en telógeno, anágeno o catágeno. Objetivos: Caracterizar el tricograma en pacientes chilenos y determinar las diferencias existentes entre los porcentajes de anágeno y telógeno entre cuero cabelludo normal y la zona de menor densidad. Material y Métodos: Estudio observacional descriptivo y retrospectivo de análisis de tricogramas diferenciales de cuero cabelludo. Resultados: Las diferencias del porcentaje de anágeno y telógeno entre cuero cabelludo normal y la zona de menor densidad fueron estadísticamente significativas.

Introduction: Trichogram consists in removing hair follicles from the scalp and examining them under a microscope to determine the percentage of them that are in telogen, anagen or catagen. Aim: To characterize trichogram in chilean patients and determine the differences in anagen and telogen percentages between normal scalp and a lower density zone. Material and Methods: Observational, descriptive and retrospective study of the analysis of differential trichograms of the scalp. Results: The differences in anagen and telogen percentages between normal scalp and the lower density zone were statistically significant.Key words: Trichogram, anagen, telogen.

A Case of Anagen Effluvium Induced by INH (Isonicotinic Acid Hydrazide) / 대한피부과학회지

We report a case of a 30 year-old woman who presented with acute scalp hair loss induced by isonicotinic acid hydrazide gap (INH). Considerable hair loss started within 4 weeks of INH administration. There was no evidence of dermatitis, allergic reaction, or any other cause for the hair loss. INH was discontinued, and the hair loss stopped within 4 weeks, with new hair growth seen. There was complete recovery of hair loss after 12 weeks of alopecia. Medication-induced hair loss is an occasional adverse effect of many drugs, however hair loss induced by INH has been reported in only 1 case. The complete recovery from anagen effluvium is difficult to explain, but it could have been due to the early discontinuance of INH.

Normal Anagen Effluvium as the Presenting Sign of Pemphigus Vulgaris: a Case Report / 대한피부과학회지

Pemphigus vulgaris is an autoimmune blistering disease of the skin and mucous membranes. It is characterized, histologically, by intraepidermal blisters, and immunopathologically, by the bound and circulating IgG directed to the epithelial desmosomes. In the majority of patients, painful mucous membrane erosions, especially in the oral cavity, are the presenting sign. The hair follicle is also a preferential target for pemphigus autoantibodies as the desmosomal proteins are overexpressed in follicular epithelium. We herein report a case of pemphigus vulgaris presenting with normal anagen effluvium.

Effects of Substance P on the Hair Growth in Human Hair Follicle Organ Culture / 대한피부과학회지

BACKGROUND: In vitro, some neuropeptides, including substance P(SP), act as a growth factor. The cyclic growth of the richly innervated hair follicle offers a model for probing such functions in a complex, developmentally regulated tissue interaction system under the physiologic condition. Dissecting the role of neuropeptides in this system may also reveal as yet obscure neural mechanisms of hair growth control. OBJECTIVE: The purpose of this study was to investigate the effect of SP on human hair growth using a recently described model in which isolated hair follicles are grown in vitro. METHODS: After the healthy human hair follicles without any visible damage were collected, they were cultured in DMEM with several combination of supplements including insulin, hydrocortisone, sodium selenite, human transferrin, fetal bovine serum at 37 degrees C in an atmosphere of 5% CO2 /95% air incubator, and SP was added to the media. The culture media were supplemented with final concentration of 10(-6),10(-7),10(-8) M SP dissolved in DMEM. The results were evaluated by measuring linear hair fiber growth and hair follicle morphology on light microscopy and electron microscopy and by measuring radioisotope uptake of [methyl-3H] thymidine and [U-14C] leucine of hair follicle. RESULTS: The following results were obtained from this study. 1. SP did not have an statistically significant effect on the rate of linear hair growth in cultured hair follicles. However, it prolonged the anagen stage of hair cycle. 2. We could not find morphological differences of hair follicles cultured in SP groups compared with those cultured in control group. 3. DNA and protein synthesis in hair follicles increased steadily for 5 days of culture. CONCLUSION: From the results, we can conclude that SP has growth-stimulatory effect and especially prolongs the duration of anagen phase without affecting the rate of linear hair growth.

A Case of Loose Anagen Hair / 대한피부과학회지

An 34-year-old woman was referred to our outpatient clinic because of 3-year history of diffuse hair loss. According to her, the hair loss tatalled more than 300 hairs daily and she had not been given any systemic medication. There was no history of hair disease in the family except for her father with androgenetic alopecia. On clinical examination there was diffuse alopecia of the frontal and parietotemporal scalp. There were no signs of scalp inflammation or scarring and were no short or broken hairs. The condition did not affect the eyebrows or eyelashes. The nails and teeth were normal. The hair was dry and lusterless, and numerous hairs were easily and painlessly pulled out after exerting soft traction. Light microscopic examination of these hairs showed them to be in anagen with pigmented, twisted hair bulbs and no internal or external root sheaths. Ruffling of the cuticle was seen on a short part of the proximal hair shaft, the rest of the hair being normal in appearance. The incisional biopsy showed fragmented inner root sheath. We diagnosed her for loose anagen hair and educated her to treat her hair gently. She has shown no improvement for two month follow up and is lost after then.