Cochlear implantation in Bjornstad syndrome: a case series with literature review.

BACKGROUND: To report the presentation, diagnostic process, management and results of cochlear implantation of patients diagnosed with Bjornstad syndrome with profound sensorineural hearing loss (SNHL). CASE PRESENTATION AND MANAGEMENT: A retrospective report of two siblings with Bjornstad syndrome suffering profound SNHL unresponsive to conventional hearing aids treated with bilateral simultaneous cochlear implantation. SETTING: Tertiary-referral center. RESULTS: Cochlear implant surgeries of two siblings (four ears) with profound SNHL and bilateral inner ear anomaly (incomplete partition type 1) were performed without complications. Postoperative audiometric measurements showed a significiant improvement in pure-tone threshold and a word recognition score. In the literature review, no previous case of Bjornstad syndrome treated with cochlear implantation has been reported. CONCLUSIONS: Cochlear implantation is an effective, safe, and ultimate treatment option for Bjornstad syndrome with profound SNHL not responding to hearing aids.

A systematic review of Pilomatrix carcinoma arising from the previous scar site of Pilomatrixoma.

Pilomatrix carcinoma is a rare tumor arising from the hair follicle matrix cells most commonly seen in the head and neck region. Also known as "calcified epithelial carcinoma of Melherbe," it was first reported in 1980 by Lopansri and Mihm. Since then till date to the best of our knowledge only around 125 cases were reported in literature, of which only 11 cases were reported to arise from histologically proven areas of previous pilomatrixoma which is the benign variant. One such case is being reported here along with the review of literature. A 50-year-old man presented with a swelling in the nape of his neck since 6 months, which was gradually increasing in size. He had a history of similar swelling at the same site 18 months back for which he underwent a surgery at a center outside. Final histopathology report was suggestive of pilomatrixoma with negative margin. Wide local excision of the tumor with 3 cm margin, placement of surgical clips followed by a primary closure was done. The final histopathology report is suggestive of pilomatrix carcinoma. The patient has no recurrence in 6 months follow-up. The differential diagnosis of pilomatrix carcinoma should be considered in cases of recurrent skin tumors. Wide local excision is the preferred treatment. Re-excision should be done in margin positive cases and cases where simple excision was done due to improper preoperative diagnosis. Due to the rarity of the disease, adjuvant treatment is not properly defined.

A malignant proliferating trichilemmal cyst arising on the elbow of a man: A case report and review of the literature.

INTRODUCTION: Trichilemmal cysts (TCs) are common benign cysts that form from the hair follicles in the skin. Proliferating trichilemmal cysts (PTCs) are rare types of TCs characterized by rapid cellular proliferation. Malignant transformation of PTC (MPTC) is a rare adnexal tumor that account for <0.1% of all skin cancers. TCs and PTCs are benign tumors; however, MPTCs grow rapidly and are prone to metastasis. CASE PRESENTATION: A 77-year-old man was referred to our hospital with a solitary pinkish mass on his left elbow. Trichilemmal carcinoma arising from a PTC was confirmed through excisional biopsy, and wide excision was performed. One month postoperatively, a cystic mass was observed and was suspected to have local recurrence; however, bursitis was confirmed after excisional biopsy. After 1 year of follow-up, the patient maintained an improvement without recurrence or any other surgical complications. CONCLUSIONS: In addition to being a very rare disease, MTPC occurred in the elbow of a man who does not fit the general etiology; therefore, it is considered an interesting case, and we report this case for academic contribution.

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.

Pilomatrix Carcinoma-Rare Presentation of an Unusual Cutaneous Malignancy.

INTRODUCTION OR BACKGROUND: Pilomatrix carcinoma is a rare malignant neoplasm arising from the root of hair follicles, with only 150 cases described in the world literature. It is most commonly seen in the head and neck region. CASE PRESENTATION: We describe a case of malignant pilomatrix carcinoma in a 62-year-old gentleman presenting as a solitary globular mass over the right anterior chest wall along with a brief review of literature. DISCUSSION AND CONCLUSION: Surgical excision with a wide margin is the current standard of care for chest wall pilomatrix carcinoma and is associated with the least recurrence. Role of radiation as definitive treatment of the primary or as adjuvant therapy has not been clearly established.

Periocular pilomatrixoma in childhood: Clinical feature and differential diagnosis.

PURPOSE: To explore the clinical characteristics, imaging features, and differential diagnosis of periocular pilomatrixoma in children and provide evidence for clinical diagnosis and treatment. METHODS: Retrospective analysis of the clinical characteristics, preliminary diagnosis, imaging features, treatment, and follow-up of the cases of pediatric periocular pilomatrixoma treated at our hospital. RESULTS: A total of 59 patients from 4 months to 13 years of age (median age 4 years) were collected; 18 cases (30.51%) were misdiagnosed as other diseases in preliminary diagnoses. Seven cases underwent computed tomography (CT) examination, with CT value ranging from 63.4 Hounsfield Units (HU) to 952.0 HU (median value 151.0 HU). Six cases underwent magnetic resonance imaging (MRI) examination; two patients underwent an enhanced scan. The results showed that the rim of the lesion was enhanced, but the contents were not enhanced. All patients underwent surgical treatment. No recurrence was found from 1 month to 5 years of follow-up. CONCLUSIONS: Periocular pilomatrixoma is a relatively common tumor in children, which can easily be misdiagnosed clinically as other diseases, such as sebaceous and dermoid cysts. Although not generally recommended, CT can be of significant value in the diagnosis of pilomatrixoma. MRI is of little value in the diagnosis of this disease. If CT images show high or density, the possibility of pilomatrixoma should be considered.

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.

Surgical experiences in pediatric pilomatricoma: punch incision and elliptical excision.

BACKGROUND: As pilomatricoma is a common adnexal skin tumor often occurring in exposed areas, dermatologists focus on minimizing postsurgical scarring. METHODS: This retrospective study included patients aged < 19 years who underwent surgical treatment for pilomatricoma at a single university hospital from 2015 to 2021. Patient demographics, tumor characteristics, and surgical outcomes were analyzed according to the surgical methods including punch incision and elliptical excision. RESULTS: Overall, 75 patients and 79 lesions were included in the study. The mean age of the patients was 8.4 years, and 48 patients (64.0%) were females. The face was the most common site of pilomatricoma (51.9%), and within the face, the cheeks were the most common sites. No recurrence was observed in the elliptical excision group, while one case of recurrence (4.5%) was observed in the punch incision group. The mean length of the wound was 2.00 cm in the elliptical excision group, which was longer than that in the punch incision group (0.49 cm; p < .001). CONCLUSIONS: Considering that surgery is the gold standard treatment for pilomatricoma, punch incision may be useful as an alternative surgical option for pilomatricoma in children.

Calcifying epithelioma of Malherbe - a rare localization.

Calcifying epithelioma of Malherbe, also known as pilomatricoma or pilomatrixoma, mostly arises in the matrix hair follicle. It generally affects the head and neck, upper extremities, and trunk, with the lower extremities being a rare exception. We hereby present a case of a 31-year-old male patient who presented with a small, firm, subcutaneous mass over the left malleolus, which was provisionally diagnosed as lipoma. Surgical excision was performed, and the histopathology report revealed it to be pilomatricoma of the left malleolus.

Commonly Misdiagnosed Facial Lesion: Pilomatricoma.

Pilomatricoma, also known as Pilamatrixoma or Malherbe's calcifying epithelioma, is a benign skin tumour with a bimodal age distribution between the paediatric and elderly age groups. Although it was previously thought to be rare, recent studies have revealed that it is quite common. Typically, pilomatricoma is diagnosed following histopathological examination of the lesion as it is frequently misdiagnosed with other types of skin pathology. In our case, the child presented with painless swelling of the left infraauricular region. The initial cytology and imaging were unable to provide a definite diagnosis. An excision biopsy was done, and a histopathological examination was suggestive of Pilomatricoma. Therefore, Pilomatricoma ought to be considered in the differential diagnosis of head and neck lesions in hopes of providing a better understanding on this pathological lesion.

Rare case of multiple and perforating pilomatrixomas in a young girl with lymphovascular malformation reveals a potential new disease association.

This report details the case of a girl of primary school age who was referred to our plastic surgery department with an ulcerating lesion on the nape of her neck. A firm mass was palpable in the underlying subcutaneous tissue. This lesion was accompanied by two smaller firm nodules: one in the adjacent tissue and another in the left preauricular region. Ultrasound and MRI demonstrated multiple calcified nodules confined to the subcutaneous tissue. An incisional biopsy of the ulcerating lesion confirmed a diagnosis of perforating pilomatrixoma; the lesion was subsequently excised, with no sign of recurrence at 3-month follow-up. The patient had a history of lymphovascular malformation (LVM) and a paternal history of Gardner's syndrome. Pilomatrixoma and Gardner's syndrome have a well-documented association in existing literature; aberrant Wnt/beta-catenin signalling is common to both. Recent laboratory studies suggest this pathway is also implicated in the pathogenesis of LVM.

Giant pilomatrixoma with bullous appearance on the back: A case report and discussion of misdiagnosis.

Pilomatrixoma is a benign, asymptomatic skin tumor that forms from hair follicle matrix cells. Most are under 3 cm in diameter and occur on the head, face, or neck. Bullous appearance is very rare in pilomatrixoma. In this case report, we present a case of bullous pilomatrixoma of unusual size, region, symptoms, and patient age. It had been misdiagnosed as a keloid and as dermatofibrosarcoma protuberans. Early treatments were ineffective. The patient approached our outpatient facility and underwent excision. He was then diagnosed with pilomatrixoma by pathological examination. The clinical appearance of this case was quite difficult to diagnose, even MRI and B-ultrasonic examinations provided limited diagnostic evidence. Given the revelations from this case, we reemphasize the importance of performing a biopsy (if patients refused operation or preferred conservative treatment) before any invasive treatment to minimize economic or time loss of patients who have difficulties in diagnosis.

Effects of Needle Assisted Radiofrequency Ablation on Human Eyelashes and Eyelids: A Histopathological and Morphometric Study.

PURPOSE: To analyze the histopathological changes in eyelash following electroepilation using radiofrequency (RF) cautery. METHODS: RF current was applied to the eyelash root in human eyelids (from exenteration or eyelid shortening procedures) at a pre-determined depth of 3 mm excision a-priori, and processed for routine histology. Studied parameters were the extent of necrosis, involvement of the eyelash bulb, and type of bulb damage (partial or whole necrosis). Also, seven patients of chronic cicatrizing conjunctivitis with trichiasis (n = 4) and distichiasis (n = 3) underwent electroepilation using the above RF protocol. RESULTS: Twelve eyelid specimens of seven patients (mean age 40 years; five upper eyelid and seven lower eyelid) were evaluated histologically. Majority of specimens (92%) showed coagulative necrosis in the eyelash bulb, follicle, orbicularis oculi, adjacent nerves, and blood vessels. The mean depth of necrosis was 2.12 ± 0.63 mm. Of 12, eleven eyelash bulbs showed necrotic changes with only partial bulb involvement in 55% of eyelids. The horizontal extent of coagulative necrosis was not uniform across the lash track, and the majority showed a wider area of damage in the lower segment. Of seven, all patients with trichiasis (4/4) showed no recurrence of lash misdirection whereas 66% of distichiasis patients (2/3) showed recurrent lash growth with one sitting of electroepilation applied at 3 mm. CONCLUSIONS: Electroepilation guided by RF current produces variable necrotic changes in the eyelash root, leaving portions of intact bulbs in half of the eyelids.

Pilomatrical Acanthoma: An Extremely Rare Intraepidermal Variant of Pilomatricoma.

ABSTRACT: Pilomatrical differentiation can be observed in a variety of benign and malignant tumors, with the most common prototype being pilomatricoma. Pilomatricoma often presents in the deep dermis or subcutis, and the sole involvement of epidermis is extremely rare. In our current case series, specimens from 5 patients were included with an average age of 68 years. All lesions presented as solitary verrucous or keratotic papules on the extremities, with 1 lesion having a prominent horn. All lesions have a variable mixture of basaloid matrical cells and shadow cells, and all lesions express ß-catenin (strong nuclear and cytoplasmic), lymphoid enhancer-binding factor 1 within the matrical component, and pleckstrin homology-like domain family A member 1. The histomorphology and immunoprofile of all lesions are of pilomatrical differentiation, confined to the level of the epidermis. Based on these findings and analogous to the terminology used for other benign intraepidermal proliferations (hidroacanthoma simplex and epidermolytic acanthoma), we propose the term "pilomatrical acanthoma" for these rare lesions.

Ossifying pilomatricoma and a novel hypothesis for its pathogenesis: A case report and comprehensive literature review.

RATIONALE: Pilomatricoma is a benign skin appendageal tumor derived from hair follicle matrix cells that commonly affects the head, neck, and upper extremities of the pediatric population. Since the original tumor description, diverse variants have been reported in the literature. Pilomatricoma with florid osseous metaplasia is described as an ossifying pilomatricoma and is recognized as a distinct variant of this benign tumor. However, the pathogenesis of this variant remains unclear. In this study, we present an uncommon case of ossifying pilomatricoma and address the pathogenesis of metaplastic ossification through a comprehensive literature review. PATIENT CONCERNS: A 14-year-old boy presented with an asymptomatic protuberant mass in the preauricular region. DIAGNOSIS: Based on its clinicopathological features, we diagnosed the lesion as an ossifying pilomatricoma. INTERVENTIONS AND OUTCOMES: The lesion was surgically removed under local anesthesia. The postoperative course was uneventful during the 6-month postoperative follow-up. LESSONS: We suggest that metaplastic ossification in ossifying pilomatricoma represents another feature of foreign body reaction to keratinous materials containing shadow cells in old lesions and a walling-off phenomenon to prevent exposure of surrounding tissues to keratinous materials.

Two Cases of Malignant Proliferating Trichilemmal Tumor (MPTT) and Review of Literature.

Malignant proliferating trichilemmal tumors (MPTTs, malignant proliferating pilar tumors) are theorized to originate from the outer root sheath of the hair follicle which resembles the isthmic portion of the hair follicle and epithelium of the lower hair follicle in catagen phase.1 They may develop de novo or arise from a pre- existing trichilemmal cyst or proliferating trichilemmal tumor. The tumors typically present with rapid growth on the scalps of women over the age of 50. In this review, we present two cases of MPTT, presenting on the scalp of a 69-year-old woman and the scalp of a 53-year-old woman. Both tumors were successfully treated with surgery and radiation. In addition to the classic histologic features, pilomatrical differentiation was also seen in case 1, a histologic feature that has rarely been described. In this paper, we review previously reported cases and summarize basic demographics, lesion size, location, treatment method, and patient outcome.

Pilomatricoma of the thigh: a case report.

Pilomatricoma, formerly known as calcifying epithelioma of Malherbe, is a rare, benign, annexic skin tumor developed from the cells of the pilar matrix. The cure without recurrence is the rule after complete surgical excision. Clinical diagnosis is challenging. Actually, differential diagnosis include malignant pilomatricoma or trichomatrical carcinoma with significant aggressive potential. However, the diagnosis of pilomatricoma must remain clinical and be confirmed histologically. We report the rare case of a pilomatricoma, in an unusual location in the thigh.

Bilateral Cervical Pilomatricoma: A Diagnostic Dilemma for the Pediatric Otolaryngologist.

Pilomatricomas are benign skin tumors often encountered by otolaryngologists but frequently misdiagnosed. Although they can occur at any age, they commonly present in children as a discolored superficial lesion adhered to the overlying skin. Accurate preoperative diagnosis is crucial for appropriate management, which is surgical in most cases. Here, we present bilateral pilomatricomas mimicking features of several other diagnoses in a pediatric patient. The patient was successfully treated with surgical excision. This case presented a unique diagnostic challenge, as the lesions exhibited features of several common diagnoses. In general, surgical management of pilomatricoma is curative, and recurrence is rare.