Hair Follicle Matrix Research Articles

Transcriptome-based screening and validation of key genes for wool color in cashmere goats.

Colored wool from cashmere goats is increasingly popular among consumers, but the transcriptomic differences between coat colors are poorly understood. This study aimed to screen for coat color regulation-associated genes in cashmere goats to ascertain their underlying molecular mechanisms. Transcriptomic sequencing of skin tissues from black (BC), brown (YC), and white cashmere (WC) goats was performed. Immunohistochemistry and western blotting were used to validate SLC24A4 and DCT expression, two essential genes identified for coat color determination. We identified 6,518 differentially expressed genes (DEGs) in the BC vs. WC group (3,919 upregulated, 2,599 downregulated). Next, 5,593 DEGs were identified in the YC vs. WC group (3,629 upregulated, 1,964 downregulated). Finally, 4,538 DEGs were expressed in both groups, with 1,980 and 1,055 DEGs exclusively expressed in either group. Functions and pathways associated with hair color were enriched, including melanosomes, melanocyte migration, melanin biosynthesis processes and functions, and melanogenesis pathways. TYRP1, SLC24A4, PMEL, OCA2, and DCT were significantly upregulated in BC goat skin, while ASIP was significantly upregulated in YC skin. Additionally, KIT, POMC, SLC24A5, Wnt3a, and EDN3 were DEGs for different coat colors. Immunohistochemistry revealed SLC24A4 and DCT expression in dermal papillae, inner and outer root sheaths, and the hair follicle matrix. Western blotting showed that SLC24A4 protein levels were highest in BC goat skin. DCT protein levels were also highest in BC goat skin, albeit not significantly. These results further our understanding of coat color regulation in cashmere goats, establishing a foundation for their molecular breeding.

Rare presentation of pilomatrixoma as a fungating breast mass: Case report and literature review

Pilomatrixomas are rare tumors arising from the cellular matrix of hair follicles and typically manifest as subcutaneous nodules. This case report highlights a rarer presentation in a 68-year-old female who presented with a protruding, painful left breast mass. After an initial biopsy revealed a benign pilar cyst with keratin material, the tumor exhibited progressive growth, resulting in skin fistulas and calcified material exuding from the skin. Final surgical pathology confirmed a benign pilomatrixoma. This case underscores the importance of timely diagnosis and surgical treatment of this rare tumor to prevent tumor growth, skin erosion, and secondary infection.

Giant pilomatricoma with coexisting angiomyxoid stroma histopathology: a case report

Introduction: Pilomatricoma, also known as benign calcifying epithelioma of Malherbe, is a follicular tumor originating from cells in the hair follicle matrix. It usually manifests as a firm subcutaneous mass up to 3 cm in size. Less commonly, it may measure >5 cm and in such cases is called giant pilomatricoma. We herein present a case of a subcutaneous lesion that was characterized by aggressive biological behavior and initially thought to be malignant but subsequently found to be a rare angiomyxoid variant of giant pilomatricoma. Case presentation: This case involved a young, healthy woman with a rapidly growing subcutaneous lesion on the distal lateral side of her right arm. An incisional biopsy was performed, and the lesion was diagnosed as hyperplasia of the epidermis and subcutaneous tissue, likely of reactive nature. After radical excision, analysis of the entire specimen led the pathologist to diagnose a rare variant of giant pilomatricoma with angiomyxoid stroma. Discussion: Classic pilomatricoma is an indolent, slow-growing lesion that is well defined and not fixed to the underlying tissue planes. However, after showing no signs of enlargement for 6 months, the lesion in the present case began to grow in a very unusual and concerning manner, suggesting a skin malignancy. The patient’s young age and the rapid development and large dimensions of the lesion led us to suspect a sarcoma. Conclusion: This case highlights the importance of cooperation between the dermatosurgeon and the pathologist to ensure thorough evaluation of such misleading cases. Such cooperation will guide appropriate management decisions and avoid overtreatment of benign lesions.

Childhood pilomatrixoma: Case series with a comprehensive literature review

Pilomatrixoma is a benign skin tumor that develops from the hair follicle matrix cells. It represents around 0.1% of all skin tumors. Although pilomatrixomas are well-recognized lesions, clinically they are frequently misdiagnosed primarily due to a lack of awareness by clinicians. We have retrospectively reviewed medical records of six children with a histologically diagnosed pilomatrixoma between January 2018 and April 2023. There were four boys and two girls with median age at presentation of 8 (range 4 to 12) years. The common complaint was of a painless swelling that was immobile and fixed to the overlying skin. All but one patient had solitary lesions and most of them were in the head and neck region. The size of the lesions ranged from 0.8 to 1.5 cm. All the patients had their lesions excised completely and sent for histopathological examination which confirmed the diagnosis of a pilomatrixoma. After a median follow-up of 16 (range 12 to 47) months, none of our patients developed any recurrence or malignancy. Pilomatrixoma is an uncommon benign skin tumor, sometimes with atypical forms, with no tumor-specific diagnostic feature except for a careful histopathological examination. It is easily excisable and recurrence is rare.

P09 A case series of anetodermic pilomatrixomas

Abstract Pilomatrixoma is a benign tumour that arises from the base of the hair follicle matrix. Anetodermic changes overlying the tumour occur in only 2% of the cases. The aim of this study is to evaluate a case series of paediatric patients who presented with anetodermic pilomatrixoma to our Paediatric Dermatology department. A retrospective analysis of all our paediatric cases with a clinical diagnosis of anetodermic pilomatrixoma within the last 4 years was made. Data were collected according to age at time of presentation, suspected clinical diagnosis, histopathological features, treatment and postoperative outcomes. Five cases were identified. All were referred as a rapidly growing tumour. The median age of onset was 15 years. The male : female ratio was 3 : 2; one presented on the neck, two on the upper limbs and two on the back. Two out of three patients reported that the lesions were painful. Clinical suspicion of anetodermic pilomatrixoma (large, atrophic, wrinkled lesion overlying a firm subcutaneous mass) was made prior to surgical removal. Four were confirmed histopathologically. Simple excision was carried out without any postoperative complications. There have been no recurrences. Anetodermic pilomatrixoma, also referred to as pseudobullous pilomatrixoma, is a rare variant of pilomatrixomas, occurring more frequently in the upper body. It presents with identifiable features but should be differentiated from other skin tumours. Pain can be a symptom due to the size of the lesion. Surgical removal is the gold standard treatment with a low recurrence rate.

IL-15 Prolongs Anagen, Stimulates Proliferation, and Suppresses Apoptosis in the Hair Matrix of Human Scalp Hair Follicles

IL-15 Prolongs Anagen, Stimulates Proliferation, and Suppresses Apoptosis in the Hair Matrix of Human Scalp Hair Follicles

A rapidly-growing erythematous nodule on the right upper neck

A rapidly-growing erythematous nodule on the right upper neck

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.

Investigate the role of Zinc and Ferritin in Iraqi patients with alopecia areata

Alopecia areata (AA) is an auto-immune disease in which there is an inflammation around the anagen phase of hair follicles. Many nutritional elements were found to modulate this immune response. Zinc and ferritin have many vital roles inside the body and are considered among the most important nutritional factors in immune modulation and division of hair follicle matrix cells. This study aimed to investigate the role of zinc and ferritin in patients with alopecia areata. A case control study including a total of 40 patients with AA who were attending the outpatient clinic at Al-Kindy Teaching Hospital, Baghdad during the period from 2nd June 2019 to 31st March 2020. Other 65 age- and gender- matched apparently healthy subjects. Demographic of the patients and controls and clinical data of the patients were recorded through direct interview. Blood samples were collected from all participants, and serum level of zinc and ferritin were measured using enzyme linked immunosorbent assay(Elisa). Results revealed that in three-fourth of the patients, only scalp was involved in the lesion, while mixed lesion was reported in the 25% of the patients. Single and multiple lesions were reported in 42.5% and 57.5% of the patients respectively. Median serum level of ferritin in patients was 23.0 μg/L (range=3-98 μg/L) which was lower than that of controls (median = 27.0 μg/L, range= 10-166 μg/L) with a significant difference. Likewise, median serum level of zinc was 59.5 μg/dl (range= 15-175 μg/dl) in patients compared with 71.5 μg/dl (range= 21-201 μg/dl) in controls with a significant difference. Zinc level showed a significant positive correlation with age (r= 0.334, p= 0.041) and negative correlation with lesion size (r= -0.327, p= 0.045). In conclusion, multiple lesions in the scalp are the most common presentation of patients with AA. Low levels of ferritin and/or zinc could be involved in the pathogenesis of AA and increase the risk of disease severity.

LB1019 The early region of trichodysplasia spinulosa polyomavirus drives proliferation, altered differentiation, and ectopic expression of hair follicle differentiation markers in interfollicular tail epidermis

Trichodysplasia spinulosa (TS) is a rare hair follicle disorder that develops in immunosuppressed patients and is associated with productive infection by the TSPyV polyomavirus. Affected follicles contain an attenuated hair matrix, expanded compartment of aberrantly proliferating inner root sheath (IRS)-like cells containing viral particles, and a disorganized mass of hair shaft-like cells. The expression of viral early region (ER) genes encoding T antigens (TAgs) that drive cellular proliferation and viral genome replication is tightly restricted to hair follicle matrix cells and IRS-like cells.

Dermoscopy of pilomatricoma: A case report with a review of the literature

Pilomatricoma is a benign tumor originating from hair follicle matrix cells and characterized by the presence of cutaneous and subcutaneous nodules up to 3.0 cm in diameter, usually on the head, neck, and upper extremities, rarely on the trunk and lower extremities. An eleven-year-old female with a painless, erythematous-purplish tumor of the back. A dermoscopic examination revealed irregular linear vessels, white structures, and structureless grayish-blue areas. Histological examination after excision confirmed the diagnosis of pilomatricoma. Dermoscopy may be a useful tool for improving the clinical recognition of pilomatricoma.

Pilomatrixoma and its Imitators.

Introduction: Pilomatrixomas are benign neoplasms derived from hair follicle matrix cells. They are among the most common soft tissue head and neck tumors of childhood. Pilomatrixomas are typically isolated, slow-growing, firm, nontender masses that are adherent to the epidermis but mobile in the subcutaneous plane. This clinical presentation is so characteristic that many experienced surgeons will excise suspected pilomatrixomas without prior imaging. We reviewed the results of this approach to determine whether physical examination alone differentiates pilomatrixomas from other similar soft tissue lesions of the pediatric head and neck. Methods: Computerized review of all pilomatrixomas over a 20-year period in a single academic pediatric otolaryngology practice. Results: 18 patients presented to our pediatric otolaryngology practice between 2001 and 2021 with historical and physical findings consistent with pilomatrixoma. Of the 18 patients, 7 were male and 11 were female. Ages ranged from 1.5 to 14years, with a mean of 7.5years. Most of the lesions (12) were located in the head and face, while the rest (6) were found in the neck. All patients were treated with complete surgical excision. Pathology confirmed pilomatrixoma in 15 patients. The remaining 3 children were found to have an epidermal inclusion cyst, a ruptured trichilemmal cyst, and a giant molluscum contagiosum lesion, respectively. One additional patient presented with a small lesion of the auricular helix that was thought to be a dermoid cyst, but proved to be a pilomatrixoma on histologic examination. Discussion: As pilomatrixomas are common and have a very characteristic presentation, surgical excision without prior diagnostic imaging will lead to correct treatment in the majority of cases. High resolution ultrasonography can help to confirm the diagnosis preoperatively, but is not definitive in large case series. Most of the cystic lesions that imitate pilomatrixoma will ultimately require surgical excision.

A Selectable Biomarker in Hair Follicle Cycles – Cathepsins: A Preliminary Study in Murine

Background/Objective: Hair cycle is regulated by many biological factors. Cathepsins are involved in various physiological processes in human skin. Here, we investigated the cathepsin expression and distribution changes in follicular growth cycles for better understanding the hair cycles and to explore new intervention measures. Methods: The 24 mice (C57BL/6, female, 7-week old) were selected and removed the back hair via rosin/paraffin method. At Day 8, Day 20, and Day 25, biopsy on post-plucking area was done. Immunohistochemical staining, Western blot, and Q-PCR were used to test the cathepsin B/D/L/E. Results: In anagen, cathepsins (B, D, L, and E) were distributed in the hair follicle matrix, inner hair root sheath, and hair. In catagen, cathepsins were mainly observed in un-apoptosis inner root sheath and outer root sheath. Expression of cathepsins B-mRNA and L-mRNA was decreased from anagen and catagen to telogen. Cathepsin D-mRNA was increased in catagen and then decreased in telogen. Cathepsin E-mRNA was decreased in catagen and slightly increased in telogen. Conclusions: The distribution and expression of cathepsins B, D, L, and E in hair follicle changed with hair growth process which indicated that cathepsins might act as selectable biomarkers of hair cycle in different stages.

A cystic trichoepithelioma in a dog - A case report

Trichoepithelioma is a benign, well demarcated subcutaneous tumor that originates from hair follicle matrix or inner root sheet. A 4 year-old female Golden Retriever was presented to Department of Veterinary Clinical Complex, Veterinary College, Hassan with a history of growing mass on the left lateral digit of right forelimb. On physical examination, the mass was found to be soft in consistency and radiography revealed soft tissue swelling at 5th digit involving all the 3 phalanges. The mass was surgically excised and representativetissue samples from the mass were collected and processed by routine paraffin embedding technique, sectioned at approximately five micron thickness and stained with routine Haematoxylin and Eosin method. Histo-pathological examination of the mass showed several cysts of variable size with trichogenetic differentiation. Cysts wall were lined by thickened basal lamina cells having palisade arrangement of cells near the periphery along with shadow cells in the cystic lumen. Trichoepithelioma is considered as significant because of its histological similarities to basal cell carcinoma, and although benign, there is a rare risk of malignant transformation. The present communication describes pathological findings in a case of cystic trichoepithelioma involvingthe let lateral digit of right forelimb in a female dog.

Reticulocyte hemoglobin content as a best indicator of iron deficiency in female patients with diffuse non-scarring hair loss

Iron deficiency is a well-known cause of diffuse nonscarring hair loss in women. One of the rapidly diving cells in the body is the hair follicle matrix cells and iron is a cofactor for the ribonucleotide reductase which is the ratelimiting enzyme for DNA synthesis and, also is a regulator for multiple genes in the hair follicles. Iron deficiency without anemia is far more prevalent and about two-folds higher than iron deficiency anemia and iron deficiency is more prevalent in women than men. Iron deficiency with or without anemia is more common in menstruating women, black race, athletes, vegetarians and obese or overweight

Pilomatrix carcinoma - pilomatrixoma: Two ends of the disease spectrum

Pilomatrixoma, pilomatrix carcinoma, are neoplasms of skin appendage with differentiation towards hair follicle matrix cells. They represent two ends of the spectrum with varying clinical and pathological characteristics. Pilomatrix carcinoma is a rare malignant neoplasm, having a tendency to recur locally, with a rare propensity for distant metastasis. There is a need to differentiate the two entity, for appropriate selection of treatment. We describe a case of a pilomatrixoma in a 62 year old gentleman over the right chest along with a review of pathology and treatment options. Keywords: Pilomatrix Carcinoma, Pilomatrixoma, Cutaneous neoplasms.

Multiple pilomatricomas: Recurrent skin nodules in myotonic dystrophy

Pilomatricoma is a relatively uncommon benign tumor derived from the matrix of hair follicles. Multiple pilomatricomas may arise sporadically or in association with other disease entities. These entities include myotonic dystrophy type-1, a multisystem disorder that confers increased susceptibility to developing neoplasms, as well as familial adenomatous polyposis-related syndromes (including Gardner syndrome) and others. Here we present two case reports of multiple pilomatricomas that were initially misidentified clinically. We discuss pilomatricoma as a differential diagnosis of multiple skin nodules, its association with myotonic dystrophy in one of two patients, and describe its distinguishing microscopic features. We emphasize the importance of screening patients with multiple pilomatricomas for various syndromes that predispose to malignancy.

Clinical analysis and review of literature on pilomatrixoma in pediatric patients.

Background Pilomatrixoma is a benign tumor that originates from the hair follicle matrix. It usually presents as a hard, slow growing, solitary mass that can be easily misdiagnosed as other skin masses. The aim of this study was to clinically analyze a case series of pilomatrixoma in pediatric patients from Korea.Methods A total of 165 pediatric patients from 2011 to 2018 with a histological diagnosis of pilomatrixoma were included. A retrospective review was performed using the electronic medical records, including patient demographics, number and location of the mass, clinical and imaging presentation, and postoperative outcomes.Results There were 61 male and 104 female patients with 152 solitary and 13 multiple pilomatrixomas. Among solitary pilomatrixomas, the lesion commonly occurred in the head and neck (84.2%), followed by upper limbs (11.2%), lower limbs (3.3%), and trunk (1.3%). The pilomatrixoma lesion presented as the following types based on our clinical classification: mass (56.02%), pigmentation (25.31%), mixed (12.65%), ulceration (4.82%), and keloid-like (1.2%). Ultrasonography showed a high positive predictive value (95.56%). There were no specific complications observed except for two cases of recurrence.Conclusion Pilomatrixoma has various clinical feature presentations and commonly occurs in the head and neck. Ultrasonography is a helpful diagnostic tool. Surgical removal of the lesion is the main treatment method with a low recurrence rate.

AP-1 and TGF\xdf cooperativity drives non-canonical Hedgehog signaling in resistant basal cell carcinoma

Tumor heterogeneity and lack of knowledge about resistant cell states remain a barrier to targeted cancer therapies. Basal cell carcinomas (BCCs) depend on Hedgehog (Hh)/Gli signaling, but can develop mechanisms of Smoothened (SMO) inhibitor resistance. We previously identified a nuclear myocardin-related transcription factor (nMRTF) resistance pathway that amplifies noncanonical Gli1 activity, but characteristics and drivers of the nMRTF cell state remain unknown. Here, we use single cell RNA-sequencing of patient tumors to identify three prognostic surface markers (LYPD3, TACSTD2, and LY6D) which correlate with nMRTF and resistance to SMO inhibitors. The nMRTF cell state resembles transit-amplifying cells of the hair follicle matrix, with AP-1 and TGFß cooperativity driving nMRTF activation. JNK/AP-1 signaling commissions chromatin accessibility and Smad3 DNA binding leading to a transcriptional program of RhoGEFs that facilitate nMRTF activity. Importantly, small molecule AP-1 inhibitors selectively target LYPD3+/TACSTD2+/LY6D+ nMRTF human BCCs ex vivo, opening an avenue for improving combinatorial therapies.

Expression of survivin and p53 genes in patients with alopecia areata: A case-control study.

Alopecia areata is a common non-scarring hair loss disorder. It has been generally recognised as a loss of immune privilege leading to an autoimmune attack upon anagen hair follicles. Survivin is one of the apoptosis inhibitor proteins, responsible for apoptosis suppression and cell cycle regulation. Survivin expression has been demonstrated in the matrix and outer root sheath keratinocytes of anagen hair follicles. Survivin overexpression was shown in several autoimmune diseases, and it was postulated that it contributes to the survival of self-reactive T and B cells. P53 is a tumour suppressor gene that was suggested to repress autoimmunity via induction of T regulatory cells. Survivin gene expression is transcriptionally suppressed by wild-type p53. The aim of this study was to investigate survivin and p53 genes expression in alopecia areata patients. The mRNA tissue expression of survivin and p53 was measured by quantitative real-time polymerase chain reaction in lesional and non-lesional punch scalp biopsies of 25 alopecia areata patients and 25 healthy subjects. The study showed higher mRNA expression of survivin in lesional biopsies compared to non-lesional (P<0.001) and control biopsies (P=0.001). In non-lesional biopsies, the expression was significantly lower than in control biopsies (P<0.001). The expression of p53 was lower in both lesional and non-lesional biopsies relative to control biopsies. However, the difference was only significant in non-lesional biopsies (P=0.017). Our results suggested that survivin and p53 genes expression was altered in patients with alopecia areata.