Adriana Rakowska

Comma hairs: A dermatoscopic marker for tinea capitis: A rapid diagnostic method

BACKGROUND Dermatoscopy and videodermatoscopy have been used for several years in the diagnosis of skin disorders. OBJECTIVE We sought to determine whether tinea capitis (TC) shows characteristic videodermatoscopy features that may facilitate its differentiation from alopecia areata (AA). METHODS Two patients with TC caused by Microsporum canis, confirmed by mycological culture and fluorescence under Wood lamp, were examined with videodermatoscopy and results were compared with videodermatoscopy results of 12 patients with AA. RESULTS The distinctive and most prominent feature of TC was presence of commalike structures (comma hairs). These were accompanied by broken and dystrophic hairs. Videodermatoscopy features of AA included exclamation mark hairs, vellus and dystrophic/cadaverized hairs, and yellow dots corresponding to hyperkeratotic hair follicle plugs. LIMITATIONS This study was conducted on two patients, both with M canis infection. CONCLUSIONS Comma hairs were observed as a distinctive videodermatoscopy feature of M canis-induced TC. This finding was not observed in AA, typified generally by exclamation mark hairs.

Trichoscopy in genetic hair shaft abnormalities

BACKGROUND Diagnosis of hair shaft abnormalities is based on light microscopic examination of more than 50 plucked hairs. The aim of this study was to verify whether hair shaft abnormalities may be visualized by trichoscopy (hair and scalp videodermoscopy) and to analyze trichoscopic features of common genetic hair shaft dysplasias. METHOD Patients with known genetic hair shaft disorders were included into the study. Trichoscopy was performed with the use of Fotofinder II videodermoscope. Images performed at 20-fold and 70-fold magnification were analysed. In selected cases 160-fold magnification was used for better visualization of hair shafts. RESULTS Our results show that characteristic light microscopy features of Netherton syndrome, monilethrix, woolly hair syndrome, pili torti, pili annulati and trichothiodystrophy may be visualized by trichoscopy. CONCLUSION Genetic hair shaft abnormalities may be diagnosed by trichoscopy in a single diagnostic session without the need of plucking or cutting them for diagnostic purposes.

Hair Shafts in Trichoscopy: Clues for Diagnosis of Hair and Scalp Diseases

Trichoscopy (hair and scalp dermoscopy) analyzes the structure and size of growing hair shafts, providing diagnostic clues for inherited and acquired causes of hair loss. Types of hair shaft abnormalities observed include exclamation mark hairs (alopecia areata, trichotillomania, chemotherapy-induced alopecia), Pohl-Pinkus constrictions (alopecia areata, chemotherapy-induced alopecia, blood loss, malnutrition), comma hairs (tinea capitis), corkscrew hairs (tinea capitis), coiled hairs (trichotillomania), flame hairs (trichotillomania), and tulip hairs (in trichotillomania, alopecia areata). Trichoscopy allows differential diagnosis of most genetic hair shaft disorders. This article proposes a classification of hair shaft abnormalities observed by trichoscopy.

Trichoscopy: How It May Help the Clinician

Trichoscopy (or dermoscopy of hair and scalp) is an easy in-office technique that may be performed with a handheld dermoscope or a digital videodermoscopy system. This method is gaining increasing popularity, because it may be applied in differential diagnosis of multiple hair and scalp diseases. The focus of this article is application of trichoscopy in differential diagnosis of the most frequent hair and scalp diseases in dermatologic practice. Trichoscopy of genetic hair shaft abnormalities are briefly addressed. A new classification of perifollicular and interfollicular skin surface abnormalities is proposed.

Criteria for diagnosing pemphigus vulgaris and pemphigus foliaceus by reflectance confocal microscopy.

Pemphigus is an autoimmune, bullous disease affecting the skin and mucous membranes. The aim of the study was to evaluate whether pemphigus vulgaris (PV) and pemphigus foliaceus (PF), may be diagnosed using reflectance confocal microscopy (RCM).

Novel PAX9 mutation associated with syndromic tooth agenesis

Tooth agenesis is the most common anomaly of dental development. The purpose of the present study was to identify the causative mutation(s) in a family with a syndromic form of hypodontia. The male proband lacked 19 permanent teeth and showed defects of hair, but lacked ectodermal symptoms of skin and nails. Direct sequencing of the coding regions, including exon/intron boundaries of the msh homeobox 1 (MSX1), paired box 9 (PAX9), ectodysplasin A (EDA), and wingless-type MMTV integration site family, member 10 (WNT10A) genes, was carried out in affected family members. All identified nucleotide variations were tested in 200 healthy individuals using high-resolution melting (HRM) curve analysis to exclude the possibility that they represent rare polymorphisms. A novel heterozygous c.59delC mutation, segregating in the autosomal-dominant model, was identified in the PAX9 gene of the proband and the family members studied. This one-nucleotide deletion, located in a highly conserved paired box sequence, resulted in a frameshift (p.Pro20Argfs65) and in premature termination of translation, yielding a truncated protein 258 amino acids shorter than the wildtype protein. No pathogenic mutations were found in the MSX1, EDA, and WNT10A genes. In conclusion, the novel PAX9 deletion might be responsible for tooth agenesis and trichodysplasia in the investigated family. This c.59delC mutation potentially leads to PAX9 transcription factor haploinsufficiency.

Non-invasive diagnostic techniques in the diagnosis of squamous cell carcinoma

Squamous cell carcinoma is the second most common cutaneous malignancy after basal cell carcinoma. Although the gold standard of diagnosis for squamous cell carcinoma is biopsy followed by histopathology evaluation, optical non-invasive diagnostic tools have obtained increased attention. Dermoscopy has become one of the basic diagnostic methods in clinical practice. The most common dermoscopic features of squamous cell carcinoma include clustered vascular pattern, glomerular vessels and hyperkeratosis. Under reflectance confocal microscopy, squamous cell carcinoma shows an atypical honeycomb or disarranged pattern of the spinous-granular layer of the epidermis, round nucleated bright cells in the epidermis and round vessels in the dermis. High frequency ultrasound and optical coherence tomography may be helpful in predominantly in pre-surgical evaluation of tumor size. Emerging non-invasive or minimal invasive techniques with possible application in the diagnosis of squamous cell carcinoma of the skin, lip, oral mucosa, vulva or other tissues include high-definition optical coherence tomography, in vivo multiphoton tomography, direct oral microscopy, electrical impedance spectroscopy, fluorescence spectroscopy, Raman spectroscopy, elastic scattering spectroscopy, differential path-length spectroscopy, nuclear magnetic resonance spectroscopy, and angle-resolved low coherence interferometry.

Trichoscopy of Focal Alopecia in Children - New Trichoscopic Findings: Hair Bulbs Arranged Radially along Hair-Bearing Margins in Aplasia Cutis Congenita

Purpose: To establish whether trichoscopy can be useful in the differential diagnosis of patchy alopecia in children. Procedures: The study was a retrospective analysis (2012-2015) and included 68 patients under 6 years of age. The inclusion criteria were age and the presence of 1-3 alopecia patches. A total of 124 alopecia patches were examined with the use of a videodermoscope: 102 alopecia areata, 8 tinea capitis, 6 trichotillomania, 3 temporal triangular alopecia and 5 aplasia cutis congenita. Results: In all aplasia cutis congenita lesions, trichoscopy revealed elongated hair bulbs visible through the semitranslucent epidermis, seen at the hair-bearing margin and radially arranged. Hair regrowth [upright regrowing hairs (44%), circular hairs (23%) and vellus hairs (20%)] was observed in the majority of alopecia areata patches. For triangular alopecia, upright regrowing hairs (100%; 3/3), vellus hairs (100%; 3/3) and circle hairs (33%; 1/3) were seen inside the alopecia patch. Conclusion: Trichoscopy is a useful technique for the differential diagnosis of patchy alopecia in children. A novel finding in this study indicates that radially arranged hair bulbs visible through the translucent epidermis are characteristic of nonbullous type aplasia cutis congenita.

Reflectance confocal microscopy as a non‐invasive diagnostic tool for Hailey–Hailey disease

Reflectance confocal microscopy (RCM) is a non‐invasive method for high‐resolution, in vivo imaging of the epidermis and upper dermis. The purpose of the study was to evaluate the potential usefulness of RCM as a non‐invasive diagnostic tool for Hailey–Hailey disease (familial benign chronic pemphigus).

Cylindroma transforming into basal cell carcinoma in a patient with Brooke-Spiegler syndrome

BACKGROUND Brooke-Spiegler syndrome is a rare condition with a predisposition to develop cutaneous adnexal neoplasms, especially cylindromas, trichoepitheliomas and spiradenomas. Malignant transformation of cylindromas is rare. In such cases usually cylindrocarcinomas develop within these lesions. We present an unusual case of basal cell carcinoma developing within a preexisting cylindroma. MAIN OBSERVATIONS 58-year-old woman with a 30-year history of multiple dermal cylindromas extensively involving her scalp was referred for dermatological treatment. The patient reported that one of the long-lasting lesions, 5.5 cm in size, ulcerated within the foregoing few weeks. Histopathology confirmed cylindromas and basal cell carcinoma within the ulcerating tumor. Surgical excision of largest cylindroma tumors led to cosmetic and functional improvement. Magnetic resonance and computed tomography showed tumor infiltration into the skull lamina externa. Metastases were excluded by chest radiography and abdominal ultrasound examination. CONCLUSION Patients with Brooke-Spiegler syndrome should be followed-up for malignant transformation of skin tumors to prevent deep penetration and possible metastases.