Confocal microscopy and optical coherence tomography of inflammatory skin diseases in hairs and pilosebaceous units: A systematic review.

Common skin disorders such as acne vulgaris, rosacea and folliculitis are bothersome prevalent inflammatory diseases of hair follicles that can easily be investigated bedside using optical coherence tomography (OCT) and reflectance confocal microscopy (RCM) with micrometre resolution, opening a novel era for high-resolution hair follicle diagnostics and quantitative treatment evaluation. EMBASE, PubMed and Web of Science were searched until 5 January 2023 to identify all studies imaging hair follicle characteristics by RCM and OCT for diagnosis and monitoring of treatment in hair follicle-based skin disorders. This study followed PRISMA guidelines. After inclusion of articles, methodological quality was assessed using the QUADAS-2 critical appraisal checklist. Thirty-nine in vivo studies (33 RCM and 12 OCT studies) were included. The studies focused on acne vulgaris, rosacea, alopecia areata, hidradenitis suppurativa, folliculitis, folliculitis decalvans, lichen planopilaris, discoid lupus erythemasus, frontal fibrosing alopecia and keratosis pilaris. Inter- and perifollicular morphology including number of demodex mites, hyperkeratinization, inflammation and vascular morphology could be assessed by RCM and OCT in all included skin disorders. Methodological study quality was low, and interstudy outcome variability was high. Quality assessment showed high or unclear risk of bias in 36 studies. Both RCM and OCT visualize quantitative features as size, shape, content and abnormalities of hair follicles, and have potential to support clinical diagnosis and evaluate treatment effects. However, larger studies with better methodological quality are needed to implement RCM and OCT directly into clinical practice.

A comparative study of pilomatricoma and epidermoid cyst with ultrasound.

AIM: To explore and compare the ultrasonic (US) features of pilomatricoma (PM) and epidermoid cyst (EC) in the differential diagnosis and improve the accuracy of US diagnosis of PM. MATERIALS AND METHODS: Three hundred and nine patients who underwent US examination before surgery with a histopathological diagnosis of PM or EC after surgery were analysed retrospectively. The patients were categorised into the training and validation sets according to the inspection times. Univariate analysis was undertaken on the US and clinical features of PM and statistically significant variables (p<0.05) were included in the multivariate logistic regression model to establish a diagnostic model. RESULTS: The results demonstrated that the multivariate logistic regression model for PM was statistically significant (p<0.001). The risk factors included posterior echo attenuation and hypoechoic halos (odds ratio [OR] = 9.277, 10.254) and the protective factors included age, diameter thickness, and posterior echo enhancement (OR=0.936, 0.302, 0.156). The performance of the diagnostic model was tested using the training set (area under the receiver operating characteristic curve [AUC] = 0.974, 95% confidence interval [CI] = 0.955-0.994) and the validation set (AUC = 0.967, 95% CI = 0.926-1.000), which demonstrated good discriminant ability. CONCLUSIONS: The diagnostic accuracy for PM was higher than that for EC when the nodule is characterised by posterior echo attenuation, hypoechoic halos, smaller thickness, and younger age. The US diagnostic model developed may be used to guide the diagnosis of PM.

Cranial pilomatricoma: a diagnosis to consider.

Pilomatricomas are benign tumors of the hair follicle that occur frequently in the scalp region. They occur most often in children. We describe a case of pilomatricoma in a teenager, referred to neurosurgery for excision. This diagnosis should be considered in the workup of scalp lesions, and this case report should serve to draw attention to this entity.

Giant Pilomatricoma Mistaken for a Malignant Tumor.

Pilomatricomas are tumors originating from the matrices of hair follicles. Giant pilomatricomas, defined as pilomatricomas that are 5 cm or larger, are benign but may appear malignant clinically. We present the case of a 69-year-old man with a rapidly growing mass on his scalp. When he visited our department, the tumor measured 10.0×6.0×4.0 cm and showed inflammation and ulceration. Magnetic resonance imaging and 18 F-fluorodeoxyglucose positron emission tomography-computed tomography showed findings resembling lymph node metastasis from a malignant tumor. However, upon an incisional biopsy, the tumor was diagnosed as a pilomatricoma. Therefore, we performed an excisional biopsy instead of radical surgery and lymph node dissection. The tumor was ultimately diagnosed as a giant pilomatricoma based on the excisional biopsy, and the patient received reconstruction only at the site of the defect. A giant pilomatricoma can be mistaken for a malignant tumor due to its characteristics. In such uncertain cases, it can be helpful to first perform an excisional biopsy.

The trichoscopic features of hair shaft anomalies induced by epidermal growth factor receptor inhibitors: A case series.

BACKGROUND: Although the clinical hair changes that occur under treatment with epidermal growth factor receptor inhibitors (EGFRIs) are documented, their trichoscopic features have not been reported. OBJECTIVE: To evaluate the trichoscopic findings in scalp and facial hair, induced by EGFRI treatment. METHODS: Patients treated with EGFRIs at a tertiary oncodermatology clinic in 2015 through 2017 were evaluated for macroscopic and trichoscopic changes. RESULTS: The cohort included 23 patients (13 women; median age, 68 years) treated with EGFRIs for an average of 13 months (range, 2-40 months). Macroscopically, 18 patients (78%) had dry, lusterless, coarse, kinky, brittle scalp hair, and 17 (74%) had trichomegaly of the eyebrows/eyelashes. Trichoscopic findings were of hair shaft anomalies including pili torti, affecting scalp hair in 20 patients (87%), eyebrows in 6 (26%), and eyelashes in 8 (50%), and asymmetric hyperpigmented fusiform widening of hair scalp in 3 (13%), eyebrows in 10 (43%), and eyelashes in 4 (25%). Dermoscopic findings of the peri- and interfollicular skin were scale, whitish erythematous structureless areas, and branching vessels. LIMITATIONS: Lack of trichoscopic-histologic correlation, lack of baseline examination. CONCLUSION: The trichoscopic correlates of the macroscopic hair changes under EFGRI treatment include pili torti, and asymmetric hyperpigmented fusiform widening, with dermoscopic cutaneous manifestations of scale, whitish erythematous structureless areas, and branching vessels.

Ultrasound findings in 156 children with 169 pilomatricomas.

BACKGROUND: Cutaneous lesions present a diagnostic challenge to radiologists and clinicians alike. Pilomatricoma is the second most common skin neoplasm in childhood, yet there are limited reports in the literature focusing on imaging in pediatric patients. OBJECTIVE: To characterize the typical and atypical US features of pilomatricoma in pediatric patients and to determine the performance of the adult-based Solivetti classification for assessing pilomatricomas in children. MATERIALS AND METHODS: We retrospectively reviewed 169 US scans of pathologically proven pilomatricomas in 156 children performed over a period of 66 months. We evaluated images for the size of the lesion, borders, morphology, content, calcification, location on the skin and Doppler characteristics. RESULTS: Most of the pilomatricomas presented as single dermohypodermic lesions with peripheral vascularity on color Doppler interrogation. The cheek was the most common location, followed by the arm. Solivetti type 2 US pattern was the most frequent, and peripheral hypoechoic halo was only observed in this type. One child had an anetodermic pilomatricoma, and 11 children had multiple lesions. CONCLUSION: We showed that pilomatricomas exhibit variable sonographic patterns. In our cohort, less than 50% of the lesions showed the characteristic hypoechoic rim and less than 30% of the cases presented as diffusely hyperechoic masses with posterior acoustic shadowing. Our results show that the Solvetti classification for the US assessment of pilomatricomas can be of value in children.

Pseudocystic pilomatricoma: A new variant and review of the literature.

A classic pilomatricoma, which usually presents with an asymptomatic, solitary, firm, subcutaneous nodule in the head, neck, or extremities of the paediatric population, is easily diagnosed based on its characteristic clinical and histopathological features. However, its variants often pose particular diagnostic challenges to clinicians due to their rarity and diverse clinicopathological features. We present a new pseudocystic variant, manifesting as solid lesions floating in a fluid-filled sac.

Distinguishing a Trichilemmal Cyst From a Pilomatricoma With Ultrasound.

OBJECTIVES: To determine whether ultrasound (US) could distinguish a trichilemmal cyst from a pilomatricoma preoperatively. METHODS: Ultrasound images of 61 pathologically proven trichilemmal cysts and 90 pathologically proven pilomatricomas were analyzed retrospectively. Two radiologists evaluated several US features. The sensitivity, specificity, Youden index, and predictive values of statistically significant US features were assessed. Parallel combined tests, serial combined tests, or both were performed to identify US features with high statistical significance. RESULTS: Results from individual US features were not satisfactory; however, serial combined tests that included absence of complete internal echogenic foci, absence of a hypoechoic rim, absence of peritumoral hyperechogenicity, and absence of vascularity showed higher diagnostic utility. The sensitivity, specificity, Youden index, positive predictive value, and negative predictive value for correctly identifying a trichilemmal cyst were 74%, 88%, 0.62, 80%, and 83%, respectively. If 1 of these 4 US features was not a match for a trichilemmal cyst, pilomatricoma was considered. CONCLUSIONS: It may be possible to distinguish trichilemmal cysts from pilomatricomas preoperatively using US. A combined test is superior to using any individual US feature.

Matrical carcinoma with melanocytic hyperplasia mimicking nodular melanoma in an elderly Mexican male.

Matrical carcinoma with melanocytic hyperplasia (MCMH), previously referred to as malignant melanocytic matricoma, is a rare variant of the uncommon pilomatrical carcinoma, occurring most often on the head/neck and upper backs of middle-aged men. Nodular lesions may resemble pigmented basal cell carcinoma or melanoma clinically. We present a case of MCMH in a Hispanic patient with history of melanoma. Histopathological clues to appropriate diagnosis include basaloid cells, numerous atypical mitotic figures, matrical differentiation, shadow cells, strong diffuse nuclear and cytoplasmic expression of ß-catenin, and interspersed pigmented dendritic melanocytes.

Non-ossifying fibroma with a pathologic fracture in a 12-year-old girl with tricho-rhino-phalangeal syndrome: a case report.

BACKGROUND: Tricho-rhino-phalangeal syndrome (TRPS) is a rare autosomal dominant genetic disorder characterized by distinctive craniofacial and skeletal abnormalities, while non-ossifying fibroma (NOF) is a common benign bone tumour in children and adolescents. To date, no case of TRPS coexisting with NOF has been reported. This report presents a 12-year-old girl who had the characteristic features of tricho-rhino-phalangeal syndrome and non-ossifying fibroma with a fibula fracture. CASE PRESENTATION: A 12-year-old girl was admitted to the Department of Endocrinology and Diabetes for evaluation of brachydactyly and a right fibula fracture. Clinical examination revealed sparse scalp hair, a characteristic bulbous pear-shaped nose, and brachydactyly with significant shortening of the fourth metatarsal. Neither intellectual disability nor multiple exostoses were observed. Radiography of both hands showed brachydactyly and cone-shaped epiphyses of the middle phalanges of the digits of both hands with deviation of the phalangeal axis. Genetic analysis of TRPS1 identified a heterozygous germline sequence variant (p.Ala932Thr) in exon 6 in the girl and her father. Approximately 1 month before being admitted to our department, the girl experienced a minor fall and suffered a fracture of the proximal fibula in the right lower limb. The pathological cytological diagnosis of the osteolytic lesion was NOF. Ten months following the surgery, the lesion on the proximal fibula of the girl disappeared. CONCLUSIONS: In conclusion, the present study is the first to report a rare case of NOF with a pathologic fracture in the fibula of a girl with TRPS. The identification of a missense mutation, (p.Ala932Thr), in exon 6 of TRPS1 in this kindred further suggested that the patient had type I TRPS and indicated that mutations in this exon may be correlated with more pronounced features of the syndrome. Radiological techniques and genetic analysis played key roles in the definitive diagnosis.

Pilomatrixoma: A Comprehensive Review of the Literature.

INTRODUCTION: Pilomatrixoma, also known as calcifying epithelioma of Malherbe, is a superficial benign skin tumor that arises from hair follicle matrix cells. Although pilomatrixomas are well-recognized lesions, clinically they are frequently misdiagnosed as other skin conditions. By reviewing all the literature over the past 10 years, the aims of this article are to analyze the cause, clinical presentation, management, and outcome of pilomatrixoma among children and adults to gain a more complete understanding of this lesion in today's clinical context. METHODS: A MEDLINE and EMBASE search was conducted from January 2005 to February 2015 using a combination of the terms: "child," "childhood," "adult," and keywords: "pilomatrixoma," "pilomatricoma," and "calcifying epithelioma of Malherbe." A total of 150 articles were reviewed. RESULTS: The lesions occurred most commonly in the first and second decades (mean age 16 years and 7 months). The commonest presentation was of an asymptomatic, firm, slowly growing, mobile nodule. Only 16% were accurately diagnosed on clinical examination. Imaging in the form of ultrasound, computed tomography, and magnetic resonance imaging has been reported. Pathological diagnosis was achieved through incision, punch, and shave biopsies. Pathological findings are discussed and summarized in this review. CONCLUSION: Pilomatrixomas are thought to arise from mutation in the Wnt pathway and has been linked to several genetic conditions. It is commonly misdiagnosed preoperatively; however, with better awareness of the lesion, it can be appropriately treated while avoiding unnecessary diagnostic tests. Complete surgical excision with clear margins is almost always curative.

Calcifying epithelioma of malherbe (Pilomatrixoma): Clinical and sonographic features.

PURPOSE: The purpose of this study was to describe the clinical and sonographic features of calcifying epitheliomas (pilomatrixomas). METHODS: We retrospectively reviewed the clinical data and sonographic appearances of 59 cases of calcifying epitheliomas in 58 patients that were confirmed pathologically. RESULTS: The mean age of the patients was 26 years (range, 5-69 years) and the female-to-male ratio was 1.2. All masses were located in subcutaneous soft tissues. Overall, 76.3% of the cases were located in the head and neck; the mean tumor size was 13 mm, and 72.9% of the cases were between 10 and 20 mm in size. Of the lesions, 62.7% were hypoechoic masses with internal calcifications, and 74.6% of them showed low or moderate internal vascularity on Doppler imaging. CONCLUSIONS: The diagnosis of calcifying epithelioma should be considered in a patient with a painless, circumscribed, oval-shaped hypoechoic mass with internal calcifications and internal vascularity in the subcutaneous soft tissues of the head or neck. The mass may be small and have well-defined margins, with hypoechogenicity. © 2017 Wiley Periodicals, Inc. J Clin Ultrasound 46:3-7, 2018.

Pilomatricoma: An unusual cause of lump in a male breast.

We present the case of a 48-year-old man who presented with a painless, progressively increasing lump in the left breast. The mammographic and sonographic appearance of the lesion was suspicious for malignancy. Fine needle aspiration cytology and histopathologic examination confirmed the diagnosis of pilomatricoma. © 2017 Wiley Periodicals, Inc. J Clin Ultrasound 46:209-211, 2018.

Anetodermic pilomatricoma: clinical, histopathologic, and sonographic findings.

Pilomatricoma is a benign cutaneous tumor originatingfrom hair matrix cells. Anetodermic changes inthe skin overlying pilomatricomas are sometimesreported, although their precise mechanisms remainunknown. We present an unusual case of anetodermicpilomatricoma on the upper extremity of a 17-yearoldboy and report its clinical, histopathologic, andsonographic findings.

MR imaging findings of pilomatricomas: a radiological-pathological correlation.

BACKGROUND: Magnetic resonance imaging (MRI) findings of pilomatricomas have yet to be determined. PURPOSE: To assess the correlation between MRI and pathological findings of pilomatricomas. MATERIAL AND METHODS: MR images were obtained on patients with histologically proven pilomatricomas using a 1.5-T MR scanner. The images were retrospectively reviewed for size, signal intensity compared with skeletal muscles, and enhancement patterns. Furthermore, we assessed the presence of a reticular appearance, a ring-like appearance, and peritumoral fat stranding. RESULTS: We included 11 consecutive patients with 12 histologically proven pilomatricomas (3 boys/men, 8 girls/women; age range, 4-76 years; mean age, 20 years; median age, 14 years). The tumors were located in the head and neck (n = 6), upper extremities (n = 5), and lower extremities (n = 1). The maximum tumor diameter was in the range of 7-32 mm (mean, 16.5 mm). On T2-weighted (T2W) images, five tumors showed homogeneous hypointensity, whereas six showed reticular hyperintensity and one showed cystic hyperintensity. On fat-suppressed T2W images, nine tumors showed reticular hyperintensity, eight showed ring-like hyperintensity, and five showed peritumoral fat stranding. On fat-suppressed gadolinium-enhanced T1-weighted (T1W) images, one tumor showed no enhancement, whereas three showed reticular enhancement and five showed ring-like enhancement. Histologically, edematous and fibrous stroma was observed in 10 tumors, tumor capsules in 11, and inflammatory cell infiltration of the peritumoral fat tissue in nine. CONCLUSION: MRI features of pilomatricomas included reticular and ring-like hyperintensities on fat-suppressed T2W images and reticular and ring-like enhancement on fat-suppressed gadolinium-enhanced T1W images.

Generalized woolly hair with diventricular arrythmogenic cardiomyopathy: a rare variant of Naxos disease.

Woolly hair may occur as an isolated problem of cosmetic concern or can be a part of a systemic disease (woolly hair syndrome) with underlying fatal cardiomyopathy. Two characteristic associations of woolly hair syndrome are Naxos disease and Carvajal syndrome. Naxos disease is characterized by woolly hair, palmoplantar keratoderma, and arrythmogenic right ventricular cardiomyopathy.In this report we describe a case of a young girl who presented with heart failure and was subsequently diagnosed as a case of generalized woolly hair with biventricular arrythmogenic cardiomyopathy.Our case represented a rare variant of Naxos disease in the advanced stage of arrythmogenic right ventricular cardiomyopathy; biventricular failure may occur with involvement of the interventricular septum and left ventricle causing congestive heart failure.