Trichothiodystrophy and fragile hair: the distinction between diagnostic signs and diagnostic labels in childhood hair disease

Background Hair typically becomes fragile when there are structural abnormalities and/or a reduction in the sulphur‐containing amino acids cystine or methionine. This finding in the setting of a neuroectodermal complaint is usually labelled trichothiodystrophy (TTD). The spectrum of features within this diagnostic grouping tests the validity of using sulphur‐deficient hair as a central characteristic. Objectives To determine what diagnoses were found within a group of subjects with fragile hair and whether low cystine or methionine were relevant central characteristics. Methods We examined cases referred to us from 12 U.K. centres for hair microscopy over 10 years where hair fragility or clinical characteristics raised the possibility of TTD. All samples underwent amino acid analysis. This was achieved through cation exchange chromatography coupled with spectrophotometric quantification. Results Twenty‐five patients (11 male, 14 female) with a mean age of 11 years (0·3–37) were evaluated. Nineteen patients had features of hair damage. Of these, five patients had abnormalities on microscopy only and four patients had microscopic changes and tiger‐tail pattern but normal amino acid content. The remaining 10 patients had reduced cystine content, two of whom also had low methionine. All but one had the tiger‐tail pattern. Among the wide range of phenotypes there were only three cases matching a diagnosis of TTD. Conclusions Our data suggest that clinically apparent fragile hair in childhood is only rarely associated with a diagnosis of TTD. The tiger‐tail change is sensitive but not wholly specific to TTD. We propose that the term trichothiodystrophy be limited in its use to define sulphur‐deficient hair rather than as a diagnostic term in a heterogeneous and incoherent multisystem disorder, where sulphur‐deficient hair is one feature.     

Diagnosis of pili trianguli et canaliculi by frozen section: A rapid and inexpensive method of diagnosis

We present frozen section as a novel method in the diagnosis of pili trianguli et canaliculi that may serve as a more time- and resource- efficient alternative to current gold- standard electron microscopy. In this case series, three children between ages one and four presented with blonde hair unable to be combed into place. Frozen section was performed and evaluated under light microscopy with easy visualization of the hair shaft abnormality, consistent with the diagnosis of pili trianguli et canaliculi.     

Trichilemmal horn on burn scar tissue.

We describe the case of a 53-year-old Japanese woman with a trichilemmal horn on burn scar tissue on her left arm. When examined using light microscopy, the lesion showed U-shaped epidermal proliferations which keratinized in a fashion either identical or similar to trichilemmal keratinization. Immunohistochemical results established a relationship between the trichilemmal horn and the outer root sheath of the hair follicle. Trichilemmal keratinization was observed using electron microscopy. Apparently, the tumor had developed on a skin scar where hair follicles were not clinically present. We concluded that the tumor had originated from some hair follicle cells remaining in the epidermis after the burn.     

The appearance of pili annulati following alopecia areata

Pili annulati is a rare autosomal-dominant hair shaft abnormality. It is characterized by alternating light and dark bands along the shaft due to air-filled cavities within the cortex of the hair shaft. Alopecia areata has been previously described as a common association with pili annulati, with improvement in alopecia areata coinciding with resolution of pili annulati. We report the case of a patient with a history of alopecia areata and alopecia universalis who developed the characteristic banded hair of pili annulati upon resolution of her alopecia areata. We provide direct microscopic examination of postregrowth hairs compared to normal and cross-polarized light microscopy.     

Histopathologic diagnosis of multifactorial alopecia

Establishing a definitive diagnosis for any form of alopecia can be challenging. Adding to the diagnostic complexity is the fact that many patients have more than one form of alopecia contributing to their hair loss. We conducted a review of 1360 consecutive scalp biopsy specimens submitted for the evaluation of scalp hair loss over a 16‐month period, demonstrating that 12.5% of cases had a combination of diagnoses (multifactorial alopecia) accounting for their hair loss. An approach to the histopathologic diagnosis of multifactorial alopecia, particularly multiple forms of alopecia found in a single biopsy, is here presented.     

Sabinas syndrome in monozygotic twins

A pair of 2-year-old female monozygotic twins presented with short and brittle hair. There was marked reduction in hair density, and excessive curving of the eyelashes. Onychodystrophy was also evident. They also had developmental delay in verbal and motor skills. Neither their parents nor other relatives were known to be affected, and there was no history of consanguinity. Examination of the hair shaft under light microscopy showed trichoschisis, which was more evident under electron microscopy. Under polarized light, the hair shafts showed the pathognomonic 'tiger-tail' pattern. The level of sulphur in the hair was low. Both patients were negative for TTDN1 mutation. Clinical correlation was performed and the diagnosis of Sabinas syndrome was made. Sabinas syndrome is a very rare autosomal recessive disorder first described in a group of patients from a small community in north-eastern Mexico. It is diagnosable at birth, and its major symptoms include brittle hair, mental retardation and nail dysplasia. Structural hair abnormalities are seen by both light and electron microscopy.     

Uncombable hair and atopic dermatitis in a case of tricho‐dento‐osseous syndrome

The tricho‐dento‐osseous syndrome is a rare genetic disorder due to a mutation in the DLX3 gene on chromosome 17q21. It can affect hair, teeth, bone and nails, causing phenotypic variability. We report on an 8‐year‐old girl with tricho‐dento‐osseous syndrome, who presented in our allergy center with severe atopic dermatitis. Additional clinical findings included light, kinky hair reminiscent of pili trianguli et canaliculi (uncombable hair), enamel hypoplasia and enlarged pulp chambers of the molar teeth (tau‐rodontism). A genetic investigation revealed a de‐novo mutation in the DLX3 gene on chromosome 17q21. Electron microscopic examination of the curly hair showed a flattened hair shaft with longitudinal grooves.     

Hair Shaft Videodermoscopy in Netherton Syndrome

Abstract:   Netherton syndrome is an autosomal recessive disorder, characterized by ichthyosis, atopic manifestations, and hair shaft abnormalities (trichorrhexis invaginata). The diagnosis of Netherton syndrome may be established on the basis of just one abnormal hair, but it is often difficult to find a hair with pathognomonic features on light microscopic examination. Every attempt requires pulling new hairs. We present the case of an 11-year-old female patient with Netherton syndrome in whom hair and scalp videodermoscopy (trichoscopy) was used to visualize typical bamboo hairs and hairs with golf tee type endings in the scalp hairs and eyebrows. Trichoscopy is a method, which allows noninvasive viewing of hair shafts in many-fold magnification without the need of pulling hair for diagnostic purposes. This case shows that trichoscopy may be employed to significantly improve the chance of establishing the diagnosis of Netherton syndrome in patients.     

PLICA NEUROPATHICA AFTER USING HERBAL SOAP

A 22-year-old woman was referred to dermatology from oncology for an opinion regarding the sudden matting of scalp hair of 10 days duration. A case of primary infertility for 7 years, this patient was undergoing chemotherapy with doxorubicin, cyclophosphamide, and cisplatin after operative removal of a papillary cystadenoma (clear ceil type) from her left ovary 40 days previously.
She had noticed a sudden matting of her hair 3 to 4 hours after using a soap containing Acacia concinna for washing her hair. All efforts to disentangle the matted hairs were futile. She was feeling very uncomfortable because of the heavy solid mass of tangled hair. She told of rubbing her wet hair and using a wet towel to cover her hair after use of the soap. She denied earlier use of the soap, shampoo, setting lotions, bleaches, or hair dye. She had not cut her hair since early childhood.
Examination showed a huge, firm almost stony mass of severely tangled hair on her scalp, which was more marked over the vertex and occipital areas (Figs. 1 and 2). The hairs in the frontal area were free, thin, and straight. The skin over the entire scalp was normal. On light microscopy, a few hairs showed features of trichorrhexis nodosa. Routine hematology was normal. The patient was unable to tolerate the pain and discomfort because of the stony hard mass. She shaved her head and offered her hair in a temple, as is a common custom in parts of South India.     

Loose anagen syndrome as a severity factor for trichotillomania

Loose anagen syndrome (LAS) is a condition of childhood where anagen hairs are easily and painlessly extracted. The condition is due to poor adhesion between the cuticle of the hair shaft and the inner root sheath. A 4-year-old girl presented with patches of hair loss and a clinical diagnosis of trichotillomania was made. A hair pull test extracted multiple hairs easily and painlessly. Light microscopic examination was consistent with LAS. A biopsy was performed, which showed features of trichotillomania. However, on request the child did not display sufficient dexterity to pull out her own hair. It was subsequently determined that her hair loss was likely to be due to a third person plucking out her hair. It appears that in this case the LAS was not the cause of her hair loss, but rather acted as a severity factor for trichotillomania by proxy in that the lack of pain on plucking the hairs removed the principle deterrent.     

发疹性毳毛囊肿1例

报告1例发疹性毳毛囊肿，患者女，32岁，因前额和两侧颞部起许多蓝灰色有脐窝的丘疹10余年就诊，曾误诊为汗管瘤和异物肉芽肿，组织病理为典型的发疹性毳毛囊肿。     

An alternative diagnostic method of eruptive vellus hair cysts: Report of a familial case with pruritus

Eruptive vellus hair cysts (EVHC) represent a developmental abnormality of vellus hair follicles. Up till now more than 150 cases of EVHC have been published in the literature, but it appears to be more common than recognized. The diagnostic hallmark is the presence of vellus hair shafts within the cystic space. Firstly to evaluate the potential benefit of new diagnostic method of EVHC using a dermatoscope and secondly to report a familial case of EVHC where females were only affected. Five women from the same family with a clinical diagnosis of EVHC were included in the study. The diagnosis of EVHC was confirmed by skin biopsy with histologic examination in four patients. New diagnostic approach of the cyst contents examination with using a handheld dermatoscope was performed in all patients. Numerous vellus hair shafts were detected on the images of the cysts content taken with dermatoscope and applying the above‐mentioned method in all patients. We suggest that it seems possible to differentiate EVHC by using the dermatoscope, which appears to be simple, quick, and less time consuming.     

Trichoteiromania

We describe a 61-year-old patient who compulsively rubbed her hair and her scalp because of a psychiatric disorder. Permanent rubbing resulted in fracturing of the hair shafts, leaving 2 cm long hairs and areas with stubs of 1mm length, giving the impression of bald spots. The distal ends of affected hair shafts were split, giving the impression of white tips. Light microscopy of the hair shafts showed split, brush-like ends of otherwise normal hair. We suggest the name trichoteiromania, which means "compulsive rubbing of hair", as a new term to describe hair loss in such cases.     

Prominent follicular mucinosis with diffuse scalp alopecia resembling alopecia areata

A 56‐year‐old Caucasian female presented with a 2‐month history of alopecia. On examination, she had diffuse hair loss of her scalp with some discrete patches of nonscarring alopecia. Histopathology revealed an inflammatory nonscarring alopecia with prominent follicular mucinosis and findings suggestive of alopecia areata. The patient's alopecia completely resolved with oral prednisone. The histopathologic findings and clinical presentation are most consistent with a diagnosis of alopecia areata with follicular mucinosis, although the differential diagnosis is broad. As follicular mucinosis may be associated with both benign and malignant conditions, it is important to be cautious regarding the clinical diagnosis when this reaction pattern is observed histopathologically.     

Dermoscopy,reflectance confocal microscopy and histopathology of an amelanotic melanoma from an individual heterozygous for MC1R and tyrosinase variant alleles

We present a case of an amelanotic nodular melanoma occurring in a 26‐year‐old woman who carried a heterozygous (melancortin‐1‐receptor) MC1R 160R/W and tyrosinase (TYR) 402R/Q genotype and had a dark hair phenotype. We present dermoscopic, reflectance confocal microscopy (RCM) and histopathological images of the melanoma. We discuss the relationship between MC1R red hair colour (RHC) variants, TYR variants, phenotype and melanoma development. We also discuss the merits of RCM as an additional diagnostic aid for equivocal melanocytic lesions.     

Current standards in the diagnostics and therapy of hair diseases – hair consultation

Hair and scalp diseases present an extensive diagnostic and therapeutic task. Treating them is often a challenge for the physician in daily practice. Unclear diagnoses, chronic conditions with long‐lasting therapies and the uncertainty of the patient may often lead to unsatisfying situations for both the patient as well as the doctor. The complaints can be divided into (1) hair loss, (2) increased hair growth and (3) abnormal hair quality. A structured history and the objectification of the clinical findings with the help of standardized diagnostic methods and score systems or classifications enable a diagnosis in most patients already at the first visit. Moreover, such structured processes strengthen the treatment satisfaction and compliance of both the patient and the therapist. In the meantime, diagnostic measures and clinical practice guidelines are available for the most common hair disorders. Expertise in basic psychosomatic care and an empathetic approach to the fears and concerns as well as practical advice for the daily contact with hair disorders should be integrated as separate elements in the management of hair diseases; in most cases they are gratefully welcomed by the patients. The aim of this article is to provide the physician with a guideline for the structured management of a hair patient. An overview of recent new developments and the currently available clinical practice guidelines for diagnosis and therapy of hair disorders is presented.     

Exogenous trauma simulating perifollicular fibromas

The patient is a 63-year-old woman who presented to her dermatologist for the removal of two nevi near her mouth. Histologic examination revealed melanocytic nevi showing maturation with dermal descent. Within the dermis, adjacent to these nevoid cells, were multiple large hair follicles that were surrounded by dense fibrosis. The fibrous sheaths contained thickened, dense collagen bundles and were well circumscribed, resembling perifollicular fibromas. Further discussion with the patient and the dermatologist revealed that the patient had "plucked" hair from these nevi. We, therefore, believe that the perifollicular fibrosis that we observed is secondary to trauma. We present this case to remind all that post-traumatic events can simulate perifollicular fibromas and that the erroneous diagnosis of such could lead to the erroneous diagnosis of Birt-Hoggs Dubé syndrome.     

LIPH基因突变致常染色体隐性遗传羊毛状发1例

患者女,5岁,自幼头发生长缓慢,卷曲,稀疏。皮肤科情况:头发弥漫性稀疏、细软,致密卷曲缠绕。拉发试验阴性。眉毛及其他体毛正常。毛发镜检查示:头发细软,卷曲呈波浪状,散在黑点征。外显子组测序发现患者家系存在3号染色体LIPH基因突变,患者为c.742C>A (p.His248Asn)纯合突变,其父母为携带者。最终诊断为常染色体隐性遗传羊毛状发。     

Point scanning confocal microscopy facilitates 3D human hair follicle imaging in tissue sections

Please cite this paper as: Point scanning confocal microscopy facilitates 3D human hair follicle imaging in tissue sections. Experimental Dermatology 2010; 19: 691–694. Abstract: Efficiency is a key factor in determining whether a scientific method becomes widely accepted in practical applications. In dermatology, morphological characterisation of intact hair follicles by traditional methods can be rather inefficient. Samples are embedded, sliced, imaged and digitally reconstructed, which can be time‐consuming. Confocal microscopy, on the other hand, is more efficient and readily applicable to study intact hair follicles. Modern confocal microscopes deliver and collect light very efficiently and thus allow high spatial resolution imaging of relatively thick samples. In this letter, we report that we successfully imaged entire intact human hair follicles using point scanning confocal microscopy. Light delivery and light‐collection were further improved by preparing the samples in 2,2′‐Thiodiethanol (TDE), thus reducing refractive index gradients. The relatively short total scan times and the high quality of the acquired 3D images make confocal microscopy a desirable method for studying intact hair follicles under normal and pathological conditions.