Alopecia areata: Clinical presentation, diagnosis, and unusual cases

Alopecia areata (AA) is a nonscarring hair loss disorder with a 2% lifetime risk. Most patients are below 30 years old. Clinical types include patchy AA, AA reticularis, diffuse AA, AA ophiasis, AA sisiapho, and perinevoid AA. Besides scalp and body hair, the eyebrows, eyelashes, and nails can be affected. The disorder may be circumscribed, total (scalp hair loss), and universal (loss of all hairs). Atopy, autoimmune thyroid disease, and vitiligo are more commonly associated. The course of the disease is unpredictable. However, early, long‐lasting, and severe cases have a less favorable prognosis. The clinical diagnosis is made by the aspect of hairless patches with a normal skin and preserved follicular ostia. Exclamations mark hairs and a positive pull test signal activity. Dermoscopy may reveal yellow dots. White hairs may be spared; initial regrowth may also be nonpigmented. The differential diagnosis includes trichotillomania, scarring alopecia, and other nonscarring hair loss disorders such as tinea capitis and syphilis.     

Trichotillomania: an important psychocutaneous disorder

Trichotillomania (TTM) is a type of alopecia due to a psychocutaneous disorder, a self-induced illness classified as an impulse control disorder but with features of both obsessive-compulsive disorder (OCD) and addictive disorders. Although most common in children, this repetitive pulling out of one's own hair can occur at any age. The target usually is hair of the scalp, eyebrows, eyelashes, and pubic area using fingers, brushes, combs, and tweezers. Therapy for TTM can be challenging.     

Trichotillomania ± trichobezoar: revisited

Trichotillomania is an intriguing psychosomatic entity in which there is an irresistible desire to pull out the hair from the scalp, eyelashes, eyebrows and other parts of the body. The process results in an instant release of tension, a sense of relief and security. However, non-scaring alopecia is its clinical presentation. The development of trichobezoar following ingestion of the pulled hair is its salient complication in a few cases. Subsequently, it may cause symptoms pertaining to the gastrointestinal tract culminating in intestinal obstruction, perforation, pancreatitis and obstructive jaundice. The Rapunzel syndrome (trichobezoar) may occur when gastrointestinal obstruction is produced by a rare manifestation of a trichobezoar with a long tail that extends to or beyond the ileocecal valve. In most cases in children, trichotillomania +/- trichobezoar is a habit disorder and thus has a better prognosis. However, in adults the psychopathology is usually deeper and thus entails a poor prognosis. The diagnosis is made after taking a thorough history, noting the clinical features and evaluating a hair-root examination, where telogen hair is (almost) completely lacking, which distinguish trichotillomania from other hair disorders. Treatment modalities vary in childhood and adult varieties. Apart from psychotherapy, the drug treatment involves several agents including selective serotonin reuptake inhibitors (SSRIs) and domipramine. Trichobezoar/Rapunzel syndrome requires surgical intervention.     

Permanent alopecia following chemotherapy and bone marrow transplantation

Alopecia can be a psychologically daunting prospect for people requiring cancer chemotherapy. Fortunately, most patients experience only temporary hair loss. We report the case of a 23-year-old woman with chronic myeloid leukaemia who developed permanent, near-total alopecia of her scalp, eyebrows, eyelashes, axillary and public hair following busulphan and cyclophosphamide chemotherapy which was used as conditioning prior to allogeneic bone marrow transplantation. The histology from a scalp biopsy revealed hair follicle destruction. Topical minoxidil failed to induce significant re-growth.     

Familial keratosis follicularis spinulosa decalvans associated with woolly hair

Keratosis follicularis spinulosa decalvans (KFSD) is a rare inherited disorder of keratinization clinically characterized by diffuse follicular hyperkeratosis, progressive scarring alopecia of scalp, eyebrows and eyelashes, corneal dystrophy and photophobia. Woolly hair is a hereditary condition, transmitted as an autosomal dominant or recessive trait, usually seen in Caucasians at birth or shortly after, in which there are curly, thick, often heavily pigmented hairs. We report two cases, a son and his mother, in whom KFSD occurred in association with woolly hair. In addition, various dental anomalies, including agenesis, inclusions and teeth malformations, were present in the child. Interestingly, both patients simultaneously developed an inflammatory tinea capitis caused by Microsporum canis. To our knowledge, the association of KFSD with woolly hair has not been described. The dental anomalies found in the child are intriguing, as they have never been reported previously in patients with KFSD. Finally, the concomitant onset of inflammatory tinea capitis in both patients may be explained by the enhanced susceptibility to fungal infection in keratinizing disorders.     

Treatment of alopecia areata: An Australian expert consensus statement

Alopecia areata (AA) severity varies from a single small patch to complete loss of scalp hair, body hair, eyelashes and eyebrows. While 40% of all affected individuals only ever get one patch and will achieve a spontaneous complete durable remission within 6 months, 27% will develop additional patches but still achieve complete durable remission within 12 months and 33% will develop chronic AA. Without systemic treatment, 55% of individuals with chronic AA will have persistent multifocal relapsing and remitting disease, 30% will ultimately develop alopecia totalis and 15% will develop alopecia universalis. The unpredictable course and psychological distress attributable to AA contributes to the illness associated with AA. Numerous topical, intralesional and systemic agents are currently used to treat AA; however, there is a paucity of data evaluating their use, effectiveness and tolerability. Topical therapy, including topical glucocorticosteroids, minoxidil and immunotherapy, can be used in cases of limited disease. There are no universally agreed indications for initiating systemic treatment for AA. Possible indications for systemic treatment include rapid hair loss, extensive disease (≥50% hair loss), chronic disease, severe distress or a combination of these factors. Currently available systemic treatments include glucocorticosteroids, methotrexate, ciclosporin, azathioprine, dapsone, mycophenolate mofetil, tacrolimus and sulfasalazine. The optimal treatment algorithm has not yet been described. The purpose of this consensus statement is to outline a treatment algorithm for AA, including the indications for systemic treatment, appropriate choice of systemic treatment, satisfactory outcome measures and when to discontinue successful or unsuccessful treatment.     

Acute diffuse and total alopecia of the female scalp. A new subtype of diffuse alopecia areata that has a favorable prognosis

BACKGROUND: Although alopecia areata (AA) usually starts with focal lesions of hair loss and then presents several different clinical forms, AA may begin as diffuse hair loss. We examined 9 female patients who presented with acute, diffuse and total hair loss of the scalp and took a similar clinical course with a favorable prognosis. OBJECTIVE: To categorize such cases as a new subgroup of diffuse alopecia. METHODS: We studied 9 patients who showed acute, diffuse and total hair loss of the scalp within 1 month after their first visit to our hospital by comparing their clinical course, laboratory tests and histopathological findings with those of common, patchy AA, alopecia totalis or alopecia universalis. RESULTS: None of the patients had a background of systemic diseases or telogen effluvium. All the patients were female, and 8 of the 9 cases recovered cosmetically acceptable hair growth within 6 months regardless of steroid administration. The histology of he lesions was indistinguishable from that of AA except for a remarkable eosinophilic infiltrate. CONCLUSIONS: These cases can be categorized as a new subtype of inflammatory noncicatricial alopecia that is characterized by a marked female predominance, tissue eosinophilia and uniquely short clinical course. We suggest to name it 'acute diffuse and total alopecia of the female scalp (ADTAFS)'.     

Keratosis follicularis spinulosa decalvans

Keratosis follicularis spinulosa decalvans is a rare, X-linked disorder of keratinization of the hair follicle with inflammation and atrophy associated with corneal dystrophy and other symptoms. A family with several affected members is reported. The unaffected parents were related. A 12-year-old girl and her 5-year-old brother had follicular spiny hyperkeratoses on the trunk and extremities. The girl had thinning of the eyelashes and eyebrows as well as scarring alopecia of the scalp as additional features of the disease. Both the girl and her brother had corneal dystrophy and photophobia. Two sisters aged 8 and 10 years did not show similar skin or eye findings.     

Ichthyosis follicularis with alopecia and photophobia (IFAP) syndrome

A 12-year-old boy born of a nonconsanguineous marriage presented with dry rough skin and photophobia since birth. His growth and developmental milestones were normal and there was no history of any neurological problem, hearing deficit or scarring around the hair follicles. Cutaneous examination revealed diffuse thinning of scalp hair with loss of eyebrows and eyelashes and a sandpapery texture of the skin all over the body, suggestive of ichthyosis follicularis with alopecia and photophobia syndrome.     

Cardiofaciocutaneous (CFC) syndrome

An 11-year-old boy affected by mental retardation and seizures demonstrates congenital heart defect, many dysmorphic features and dry skin. His hair is sparse over the vertex with alopecia of the eyebrows and eyelashes. There are horny small papules evident in those areas. The diagnosis of cardiofaciocutaneous syndrome has been made. The relationship between cardiofaciocutaneous and Noonan syndrome is discussed.     

Isolated hair loss on the eyebrow: five cases with trichoscopic features

Alopecia areta (AA) and trichotillomania (TTM) are common causes for hair loss on the eyebrows. Yellow dots, vellus hairs, anisotrichosis, empty follicular openings, and black dots were observed in the present study’s patients with AA. Split hairs, question mark hairs, broken hairs, flame hairs, black dots, hairs with different lengths, and hemorrhagic areas were found in the patients with TTM. Trichoscopy is a very useful and helpful technic in distinguishing AA and TTM on the eyebrows.     

斑秃皮损的皮肤镜影像及其与临床病理的关系

目的 探讨皮肤镜下斑秃皮损的微细改变及其与临床、病理相关性。方法 使用皮肤镜观察62例斑秃患者和44例其他类型脱发患者的皮损,收集患者临床及实验室资料,并对其中15例斑秃患者进行皮损部位组织病理活检,以了解皮肤镜的组织形态学基础。结果 皮肤镜下斑秃影像为黄点征、黑点征、断发、毳毛、新生短发和感叹号样毛发。黄点征发生率最高（83.9%）,而诊断斑秃的特异性指标为感叹号样毛发、黑点和断发,且后三者发生率与斑秃的活动性及轻拉发试验阳性率呈显著正相关关系。甲状腺过氧化物酶抗体升高发生率与轻拉发实验阳性率及断发发生率呈显著正相关。黄点征发生率和病理下毛囊口角栓阳性率之间呈显著正相关关系,新生短发发生率和毛囊周围肥大细胞浸润发生率以及黑点发生率则与生长期与退行期毛囊之间比例减少均呈显著负相关关系。结论 可以用黄点征作为斑秃诊断的初筛指标,而感叹号样毛发、黑点和断发对于确诊斑秃的特异性较高,且提示患者病情仍处于活动期。斑秃患者皮肤镜影像与病理有一定相关性,可用于判断病情并指导治疗。     

53例瘢痕性秃发的临床和病理特点分析

【摘要】 目的 探讨瘢痕性脱发的临床、组织病理与皮肤镜特点,以及治疗和预后的特征。 方法 回顾性分析53例瘢痕性脱发患者的临床资料,分析其组织病理、皮肤镜征象、治疗和预后的特点。结果 瘢痕性脱发以脱发、毛囊开口消失、毛囊皮脂腺单位数目减少或消失为共同特征。基底细胞局灶液化变性、毛囊角栓、毛细血管分支状扩张、免疫荧光阳性提示盘状红斑狼疮;界面皮炎提示毛发扁平苔藓;炎症和弹力纤维轻微破坏提示假性斑秃;毛囊间黏蛋白沉积及毛囊口下陷为黏蛋白性脱发的特点;脓疱可见于脱发性毛囊炎和分割性蜂窝织炎或毛囊炎,前者多伴有簇状发,窦道形成则仅见于后者。治疗对淋巴细胞性患者使用免疫抑制剂,对中性粒细胞性患者使用抗生素和维A酸。结论 组织病理检查对诊断起决定性作用。瘢痕性脱发造成不可逆的毛囊损害,治疗周期长。早期诊断及早期合理用药可控制疾病发展,减少永久性脱发损害。 【关键词】 秃发; 瘢痕; 皮肤镜检查     

JAK抑制剂治疗儿童斑秃的研究进展

斑秃(AA)是一种常见的非瘢痕性脱发,儿童斑秃预后不佳、病情易反复,可严重影响患者及家长的心理健康和生活质量。近年来,人们逐渐发现酪氨酸蛋白激酶(JAK)/信号转导与转录激活因子(STAT)信号通路在斑秃的发病机制中起着重要作用。目前已有多篇病例报告和小型临床试验报道JAK抑制剂治疗儿童斑秃的有效性及安全性,因此JAK抑制剂对于儿童中重度斑秃的治疗可能会成为一种新的选择。     

Keratosis Follicularis Spinulosa Decalvans Associated with Acne Keloidalis Nuchae and Tufted Hair Folliculitis

Keratosis follicularis spinulosa decalvans is a rare, X-linked disorder characterized by scarring alopecia of the scalp and eyebrows in the setting of widespread keratosis pilaris. Less frequent associations are ocular abnormalities and palmoplantar keratoderma. Acne keloidalis nuchae has previously been described in one patient with keratosis follicularis spinulosa decalvans. We report another case of keratosis follicularis spinulosa decalvans with acne keloidalis nuchae and tufted hair folliculitis, thus further establishing this association.     

Histopathologic features of alopecia areata incognito: a review of 46 cases

Background: Alopecia areata (AA) incognito represents a variant of AA characterized by acute diffuse hair thinning. Dermoscopy shows yellow dots and short regrowing hairs. The differential diagnosis with telogen effluvium (TE) and androgenetic alopecia may be difficult. Methods: In order to establish histopathological criteria for the diagnosis of AA incognito, we evaluated retrospectively 92 specimens (46 horizontal and 46 vertical) of 46 patients diagnosed with AA incognito within 1 year. All specimens were assessed for 20 features, including hair counts and follicular ratios. The numbers were compared with 46 control specimens, consisting of 21 cases of TE and 25 cases of androgenetic alopecia. Results: The following main criteria are proposed: (a) preserved number of follicular units and decreased number of terminal follicles; (b) increased number of telogen structures (mean count of 37%) with presence of at least one telogen germinal unit or/and one small telogen follicle (c) decreased terminal:vellus ratio (mean ratio of 3.3 : 1) and (d) dilated infundibular openings. Conclusion: Two histopathologic clues for AA incognito include the presence of dilated infundibular openings and small basaloid aggregates of cells with round, irregular or polygonal shape, lack of hair shaft and no apoptosis in the outer root sheath, corresponding to small telogen follicles. Miteva M, Misciali C, Fanti PA, Tosti A. Histopathologic features of alopecia areata incognito: a review of 46 cases.     

Acquired causes of eyebrow and eyelash loss: A review and approach to diagnosis and treatment

Eyebrows and eyelashes serve important anatomical and social functions, and hair loss at these sites can impact patients significantly. Acquired eyebrow and eyelash loss (madarosis) may be due to a variety of underlying local or systemic disease processes; in other cases it may be idiopathic. There is a dearth of literature relating to eyebrow and eyelash loss, and there is limited guidance to help clinicians treat these clinical presentations in comparison with scalp alopecia. Here, we discuss the acquired causes of eyebrow and eyelash alopecia, our clinical approach to diagnosis and review treatment options for clinicians.     

Hair darkening close to a patch of frontal fibrosing alopecia

BACKGROUND: Fibrosing frontal alopecia is scarring form alopecia and is most often seen in menopausal women. It is currently considered as an anatomoclinical form of lichen planopilaris of selective topography. We report a case of hair repigmentation during the course of post-menopausal frontal fibrosing alopecia. CASE REPORT: A 78-year-old woman developed alopecia of the scalp and eyebrows in 1997. Her eyebrows had been white for some ten years. In 1999, she noted repigmentation of a strip of hair at the edge of her scalp, but the rest of her hair remained white. The patient had not been taking any long-term drugs or any hair treatment. Histological examination of the regions of alopecia revealed lesions of lichenoid appearance at the junction with erosion by lymphocytes and keratinocytic necroses of the lower layers of the epidermis. Direct cutaneous immunofluorescence testing was negative. A diagnosis of post-menopausal fibrosing frontal alopecia was made on the basis of the clinical and laboratory evidence. DISCUSSION: 96 cases of post-menopausal fibrosing frontal alopecia have so far been reported in the literature, but to our knowledge, this is the first case combined with or inducing hair repigmentation. The other cases of repigmentation were eliminated by history-taking, and clinical or laboratory examinations. The mechanism of hair repigmentation in our patient could have been the result of a post-inflammatory process.     

'Black dots' seen under trichoscopy are not specific for alopecia areata

Background. ‘Black dots’ are macrocomedo‐like round structures localized to the follicular ostium, and are considered a specific trichoscopic feature of alopecia areata (AA). Aim. To characterize specific features of ‘black dots’, and assess their possible presence in common hair and scalp disorders. Methods. In total, 107 patients with hair loss [30 with alopecia areata (AA), 37 with androgenetic alopecia (AGA), 17 with chronic telogen effluvium (TE), 23 with other hair and scalp diseases] and 93 healthy controls were examined, using a videodermoscope with 20–70 times magnification. Results. There was a correlation between the black dots and the early acute phase of the various alopecia types with the presence of the black dots. Black dots were found in 11% (22/107) of patients with hair loss, including 53.3% (16/30) with AA; in 40% (2/5) of patients with severe chemotherapy‐induced alopecia, and in 100% of patients with dissecting cellulitis of the scalp (n = 2), hypotrichosis simplex (n = 1), and congenital aplasia cutis (n = 1). No black dots were seen in patients with AGA or TE. Conclusions. Black dots are not specific for AA, and may be present in other hair and scalp diseases.     

Mutations in the hairless gene underlie APL in three families of Pakistani origin

BACKGROUND: Atrichia with papular lesions (APL) (OMIM#209500) is a rare autosomal recessively inherited form of irreversible alopecia characterized by papular lesions of keratin-filled cysts on various regions of the body. Males and females are equally affected and present with a distinct pattern of total hair loss on scalp, axilla and body. It begins shortly after birth with the development of hair loss, and patients are normally devoid of eyelashes and eyebrows. Mutations in the hairless (HR) gene have been previously shown to be responsible for APL. OBJECTIVE: In this study, we studied the molecular basis of APL in three unrelated families of Pakistani origin. METHOD: Molecular analysis of the HR genes was performed on genomic DNA from probands and family members. RESULTS: DNA sequencing of the HR gene in family A revealed a novel homozygous 2bp deletion in exon 6 leading to a frameshift and a downstream premature termination codon in exon 8 (1782-83delAG). In family B, we identified a novel homozygous deletion of a G nucleotide at the exon 15-intron 15 boundary, termed 3097delG. Family C carries a previously reported missense mutation consisting of an A-to-G transition at nucleotide 276 resulting in the mutation N970S in exon 14. CONCLUSION: Two mutations identified in this study are novel mutations in the HR gene and extend the body of evidence implicating the hairless gene family in the pathogenesis of human skin disorders. The one previously reported mutation suggests it may represent a recurrent mutation, or alternatively, an allele that is widely dispersed around the world.