Pilomatrix carcinoma of the lacrimal caruncle: a case report / Carcinoma pilomatricial da carúncula lacrimal: relato de caso

ABSTRACT A 45-year-old man presented with a 3-month history of a mass located in the caruncle of his right eye. An incisional biopsy had been performed one month prior by another specialist, and the histopathology report showed basal cell carcinoma. The mass was completely excised with a 2 mm safety margin, and the large conjunctival defect was reconstructed with one sheet of amniotic membrane allograft. A histological diagnosis of pilomatrix carcinoma was established. To prevent recurrence after surgery, we added bevacizumab (25 mg/mL, 1.25 mg/mL per drop) eye drops four times per day for three months. At the one-year follow-up, the patient showed no evidence of local recurrence or distant metastasis after initial excision and remains under close follow-up. Pilomatrix carcinoma should be considered in the differential diagnosis of a caruncular mass.

RESUMO Um homem de 45 anos apresentou história de massa na carúncula no olho direito durante 3 meses. Uma biópsia incisional foi realizada 1 mês antes por outro especialista e o laudo histopatológico mostrava carcinoma basocelular. A massa foi completamente excisada, com uma margem de segurança de 2 mm, e a grande lesão conjuntival foi reconstruída com uma folha de aloenxerto de membrana amniótica. Foi estabelecido um diagnóstico histológico de carcinoma pilomatricial. Para evitar a recorrência após a cirurgia, adicionamos colírio de bevacizumabe (25 mg/mL, 1,25 mg/mL por gota) quatro vezes ao dia durante três meses. No seguimento de 1 ano, o paciente não apresentou evidência de recidiva local ou metástase distante após a excisão inicial e continua sob acompanhamento próximo. O carcinoma pilomatricial deve ser considerado no diagnóstico diferencial de uma massa caruncular.

Pilomatrixoma proliferante una rara variante histopatológica simulando un carcinoma de células escamosas / Pilomatrixoma proliferating a rare variant histopathological simulating a cell carcinoma scaly

El Pilomatrixoma es un tumor anexial benigno. Presenta una variante histopatológica infrecuente denominada pilomatrixoma proliferante reportada en 1997 por Kaddu et al. Corresponde a una lesión compuesta predominantemente por una proliferación lobular de células basaloides, con atipia nuclear variable y figuras mitóticas, áreas focales que contienen material cornificado eosinófilo, junto con células sombra. Se propuso al pilomatrixoma proliferante como un subconjunto histopatológico distintivo del pilomatrixoma y se consideró como una variante proliferativa con un perfil histopatológico benigno. La dermatoscopía en este tumor, sobre todo en pacientes de edad avanzada, puede llegar a constituir una trampa dermatoscópica, que es difícil de diferenciar de otras lesiones, como el melanoma o el carcinoma de células basales. Existen múltiples reportes de casos en la literatura donde se informa de pilomatrixomas clásicos o proliferantes simulando otras neoplasias. Presentamos el caso de una paciente de 88 años con pilomatrixoma proliferante facial que simuló clínicamente un carcinoma de células escamosas y llevó a confusión diagnóstica inicial, se destacan las características histopatológicas y clínicas de los pilomatrixomas proliferantes.

Pilomatrixoma is a benign adnexal tumor. It has an infrequent histopathological variant called proliferating pilomatrixoma reported in 1997 by Kaddu et al. It corresponds to a lesion composed predominantly by a lobular proliferation of basaloid cells, with variable nuclear atypia and mitotic figures, focal areas containing eosinophilic cornified material, together with shadow cells. The proliferating pilomatrixoma was proposed as a distinctive histopathological subset of the pilomatrixoma and was considered as a proliferative variant with a benign histopathological profile. Dermatoscopy in this tumor, especially in elderly patients, can result in a dermatoscopic trap, which makes it difficult to differentiate from other lesions, such as melanoma or basal cell carcinoma. There are multiple reports of cases in the literature where classic or proliferating pilomatrixomas were reported simulating other neoplasms. We present the case of an 88-year-old patient with a proliferating facial pilomatrixoma that clinically simulated a squamous cell carcinoma and led to an initial diagnostic confusion, highlighting the histopathological and clinical characteristics of the proliferating pilomatrixoma.

Pilomatrixoma quístico con verruga vulgar intraquística: reporte de un caso / Cystic pilomatrixoma with intracystic vulgar wart: case report

El pilomatrixoma es una neoplasia anexial benigna, que habitualmente se presenta como pápula o nódulo subcutáneo, de crecimiento lento y asintomático. Es más frecuente en niños. El diagnóstico se basa en hallazgos clínicos, y la ecografía es útil como examen complementario. El tratamiento es su resección quirúrgica. Se presenta un caso infrecuente de pilomatrixoma quístico con verruga vulgar intraquística en un paciente adulto.

Pilomatricoma is a benign adnexal tumor, usually presenting as a slow growing asymptomatic subcutaneous papule or nodule. It is more common in children. The diagnosis is based on clinical findings, and ultrasound is useful as a complementary workup tool. Its treatment is surgical excision. We present a rare case of a cystic pilomatricoma with an intracystic verruca vulgaris in an adult patient.

Wooly hair nevus

Abstract Woolly hair nevus is a rare condition characterized by a structural anomaly of the hair, restricted to certain areas of the scalp. The hair becomes coiled and slightly hypopigmented. The term woolly hair refers to changes that affect all the scalp and has a hereditary character. We present a case of woolly hair nevus, that developed at the age of 2 years, associated with dental diastema and verrucous epidermal nevus.

Porokeratotic eccrine and hair follicle nevus: a report of two cases and review of the literature

Abstract: Porokeratotic eccrine and hair follicle nevus is a very rare non-hereditary disorder of keratinization with eccrine and hair follicle involvement with only 9 cases described in the literature. In 2009 the term porokeratotic anexial ostial nevus was proposed to comprehend porokeratotic eccrine and hair follicle nevus and a related and more common process without follicular involvement: porokeratotic eccrine ostial and dermal duct nevus Recent findings suggest that both entities may be produced by a mutation in GJB2 gene, which is associated to KID syndrome. Herein we report 2 cases of porokeratotic eccrine and hair follicle nevus and review the existing cases in the Spanish and English literature.

Pili canaliculi as manifestation of giant axonal neuropathy

Abstract Giant axonal neuropathy is a rare autosomal recessive neurodegenerative disease. The condition is characterized by neurons with abnormally large axons due to intracellular filament accumulation. The swollen axons affect both the peripheral and central nervous system. A 6-year old female patient had been referred to a geneticist reporting problems with walking and hypotonia. At the age of 10, she became wheelchair dependent. Scanning electron microscopy of a curly hair classified it as pili canaliculi. GAN gene sequencing demonstrated mutation c.1456G>A (p.GLU486LYS). At the age of 12, the patient died due to respiratory complications. Dermatologists should be aware of this entity since hair changes are considered suggestive of GAN.

Transplante capilar de unidades foliculares: experiência de 15 casos / Hair transplant of follicular units: a 15-case experience

Introdução: O transplante capilar de unidades foliculares (UFs) é a técnica que permite a obtenção dos resultados mais naturais. A implantação de 20 a 25 UF/cm2 possui baixo risco de dano aos folículos e tem resultado satisfatório com duas sessões. Densidade superior a 30-35 UF/cm2 permite resultado com uma única sessão, mas aumenta os riscos de dano ao folículo e perda de crescimento dos fios. O objetivo do estudo foi relatar a experiência de 15 casos de transplante capilar com implantação de 30 ou mais UF/cm2, com incisões previamente realizadas e utilizando um instrumento cirúrgico modificado para facilitar a implantação. Método: Foi realizado estudo retrospectivo de 15 pacientes submetidos em sequência a um total de 17 cirurgias, no período de julho de 2008 a junho de 2012, com tempo de seguimento de 1 ano. Resultados: Foi implantada uma quantidade média de 1433,3 UF e 3019,8 fios por cirurgia. O tempo médio de duração das cirurgias foi de 10 horas e 23 minutos. Ocorreu crescimento satisfatório dos fios com resultado visível a partir de 6 meses, com poucas complicações. Dos 15 pacientes, dois necessitaram de uma segunda sessão. Conclusões: A técnica empregada possibilitou manipulação delicada das UFs e permitiu implantação com alta densidade, obtendo bom resultado com uma sessão, mas requer tempo de execução acima da média, devendo ter uso restrito a áreas pequenas com necessidade de maior densidade.

Introduction: The transplant of follicular units (FUs) for hair restoration yields the most natural results. The implantation of 20-25 FU/cm2 has a low risk of follicular damage and yields satisfactory results within two sessions. A density greater than 30-35 FU/cm2 yields the same results within a single session but increases the risk of follicular damage and hair growth loss. We report our experience with 15 cases of hair transplantation, with an implantation density of ≥ 30 FU/cm2 and with incisions made previously using a surgical instrument modified to facilitate implantation. Method: A retrospective study of 15 patients who consecutively underwent 17 surgeries between July 2008 and June 2012 and were followed up for 1 year. Results: A mean of 1433.3 FUs and 3019.8 hairs were implanted per surgery. The mean surgical duration was 10 hours and 23 minutes. Satisfactory hair growth occurred, and results were visible at 6 months onward with few complications. Of the 15 patients, two required a second session. Conclusions: The technique used here enabled delicate manipulation of the FUs and high-density implantation that achieved good results within one session but required an above-average execution time and should be restricted to small areas requiring greater density.

Benign follicular tumors

Abstract: Benign follicular tumors comprise a large and heterogeneous group of neoplasms that share a common histogenesis and display morphological features resembling one or several portions of the normal hair follicle, or recapitulate part of its embryological development. Most cases present it as clinically nondescript single lesions and essentially of dermatological relevance. Occasionally, however, these lesions be multiple and represent a cutaneous marker of complex syndromes associated with an increased risk of visceral neoplasms. In this article, the authors present the microscopic structure of the normal hair follicle as a basis to understand the type and level of differentiation of the various follicular tumors. The main clinicopathological features and differential diagnosis of benign follicular tumors are then discussed, including dilated pore of Winer, pilar sheath acanthoma, trichoadenoma, trichilemmoma, infundibuloma, proliferating trichilemmal cyst/tumor, trichoblastoma and its variants, pilomatricoma, trichodiscoma/fibrofolliculoma, neurofollicular hamartoma and trichofolliculoma. In addition, the main syndromes presenting with multiple follicular tumors are also discussed, namely Cowden, Birt-Hogg-Dubé, Rombo and Bazex-Dupré-Christol syndromes, as well as multiple tumors of follicular infundibulum (infundibulomatosis) and multiple trichoepitheliomas. Although the diagnosis of follicular tumors relies on histological examination, we highlight the importance of their knowledge for the clinician, especially when in presence of patients with multiple lesions that may be the cutaneous marker of a cancer-prone syndrome. The dermatologist is therefore in a privileged position to recognize these lesions, which is extremely important to provide further propedeutic, appropriate referral and genetic counseling for these patients.

Three different clinical faces of the same histopathological entity: hair follicle nevus, trichofolliculoma and accessory tragus

AbstractBACKGROUND:Hair follicle nevus is a rare, congenital hamartoma with follicular differentiation characterized histologically by numerous, tiny, mature hair follicles. Trichofolliculoma, the histopathological features of which are quite similar to those of hair follicle nevus, is also a hamartoma that differs from hair follicle. Accessory tragus is a relatively common, benign congenital abnormality of the external ear with an incidence rate of 1 to 10 per 1,000 live births.OBJECTIVE:This study seeks to assess the discriminatory value of currently available, histological criteria in the differential diagnosis of hair follicle nevus, accessory tragi and trichofolliculoma.METHODS:Twenty-one patients comprising 9 cases of hair follicle nevus, 8 accessory tragi patients and 4 trichofolliculoma cases, were recruited to perform the study.RESULTS:There were 10 males and 11 females in the study group. No significant difference was observed between the three study groups in terms of age, gender or histopathological parameters such as density of hair follicles, subcutaneous fat score and presence of connective tissue framework. Cartilaginous component was seen in 8 cases that were diagnosed as accessory tragi, while central cyst and radiating hair follicles were seen in 4 cases which were diagnosed as trichofolliculoma.CONCLUSION:The results of our study showed that diagnostic discrimination of these diseases could be made only with the clinicopathologic correlation because of their clinical and histopathological similarities.

Clinical presentation of pili torti - Case report

Pili torti also known as ‘twisted hairs’ (Latin: pili=hair; torti=twisted) is a rare, congenital or acquired clinical presentation, in which the hair shaft is flattened at irregular intervals and twisted 180º along its axis. It is clinically characterized by fragile, brittle, coarse and lusterless hairs, due to uneven light reflection on the twisted hair surface. Pili torti may be associated with neurological abnormalities and ectodermal dysplasias. There is no specifi c treatment for this condition, but it may improve spontaneously after puberty. We report a case of pili torti in a child who presented fragile, brittle, diffi cult to comb hair. The patient had no comorbidities.

Proliferating pilomatricoma - Case report

Proliferating pilomatricoma is proliferative, rare tumor variant of pilomatricoma. It is a benign neoplasm of hair matrix that can have potentially involve local recurrence. We report the case of a 60-year-old man who presented an asymptomatic nodule on the scalp. Histological exam demonstrated a basaloid epithelium at the periphery, filled with eosinophilic cornified material containing shadow cells. The tumor was excised and there was no evidence of recurrence one year later.

Trichoscopy as a diagnostic tool in trichorrhexis invaginata and Netherton syndrome

Netherton syndrome is a rare autosomal recessive disease characterized by erythroderma, ichthyosis linearis circumflexa, atopy, failure to thrive and a specific hair shaft abnormality called trichorrhexis invaginata or bamboo hair, considered pathognomonic. We report the case of a 4-year-old boy with erythroderma since birth, growth deficit and chronic diarrhea. Trichoscopy was used to visualize typical bamboo and "golf tee" hair and of key importance to diagnose Netherton syndrome. We suggest the use of this procedure in all children diagnosed with erythroderma.

Síndrome de pelo impeinable / Uncombable hair syndrome

El síndrome de pelo impeinable o pili trianguli et canaliculi es un trastorno estructural del pelo, poco frecuente y de etiología desconocida. Se caracteriza por presentar un pelo rebelde, difícil de peinar. Presentamos el caso de un paciente de 9 años de edad con manifestaciones clínicas y hallazgos en la microscopia electrónica de barrido compatibles con esta entidad...

A rare clinical presentation of Desmoplastic Trichilemmoma mimicking Invasive Carcinoma

Trichilemmoma is a benign neoplasm from the outer sheath of the pilosebaceous follicle. Desmoplastic trichilemmoma, a rare variant, is histologically characterized by a central area of desmoplasia that can clinically mimic an invasive carcinoma, requiring histopathological examination to define the diagnosis.

Trichostasis spinulosa of the scalp mimicking Alopecia Areata black dots

Alopecia areata is a common autoimmune disorder that leads to nonscarring hair loss. Black dots, also called comedo-like cadaver hairs, can be found in almost 50% of alopecia areata patients and indicate disease activity. Trichostasis spinulosa is a follicular disorder resulting from the retention of numerous hairs surrounded by a keratinous sheath in dilated follicles. Trichostasis spinulosa is a relatively common but underdiagnosed disorder of hair follicles. Here, we describe a man with alopecia areata of the eyebrows, androgenetic alopecia and trichostasis spinulosa at the vertex and show how dermoscopy can be useful in distinguishing black dots from Trichostasis spinulosa lesions.

Phacomatosis pigmentovascularis type IIa - case report / Facomatose pigmentovascular tipo IIa - relato de caso

Phacomatosis Pigmentovascularis is a rare syndrome characterized by capillary malformation and pigmentary nevus. A case of a 2-year-old patient is reported, who presented extensive nevus flammeus and an aberrant Mongolian spot, without systemic disease, manifestations that allow us to classify this case as type IIa Phacomatosis Pigmentovascularis, according to Hasegawa's classification.

A Facomatose Pigmentovascular, síndrome rara, é caracterizada pela presença concomitante de malformação capilar e nevos pigmentares. Relata-se o caso de um paciente de dois anos de idade com malformação capilar extensa e mancha mongólica aberrante sem comprometimento sistêmico, manifestações que o incluem no tipo IIa na classificação da Facomatose Pigmentovascular, segundo Hasegawa.

Premature graying of hair.

Premature graying is an important cause of low self-esteem, often interfering with socio-cultural adjustment. The onset and progression of graying or canities correlate very closely with chronological aging, and occur in varying degrees in all individuals eventually, regardless of gender or race. Premature canities may occur alone as an autosomal dominant condition or in association with various autoimmune or premature aging syndromes. It needs to be differentiated from various genetic hypomelanotic hair disorders. Reduction in melanogenically active melanocytes in the hair bulb of gray anagen hair follicles with resultant pigment loss is central to the pathogenesis of graying. Defective melanosomal transfers to cortical keratinocytes and melanin incontinence due to melanocyte degeneration are also believed to contribute to this. The white color of canities is an optical effect; the reflection of incident light masks the intrinsic pale yellow color of hair keratin. Full range of color from normal to white can be seen both along individual hair and from hair to hair, and admixture of pigmented and white hair is believed to give the appearance of gray. Graying of hair is usually progressive and permanent, but there are occasional reports of spontaneous repigmentation of gray hair. Studies evaluating the association of canities with osteopenia and cardiovascular disease have revealed mixed results. Despite the extensive molecular research being carried out to understand the pathogenesis of canities, there is paucity of effective evidence-based treatment options. Reports of repigmentation of previously white hair following certain inflammatory processes and use of drugs have suggested the possibility of cytokine-induced recruitment of outer sheath melanocytes to the hair bulb and rekindled the hope for finding an effective drug for treatment of premature canities. In the end, camouflage techniques using hair colorants are outlined.