Autophagy, not apoptosis, plays a role in lumen formation of eccrine gland organoids / 中华医学杂志(英文版)

BACKGROUND@#Sweat secreted by eccrine sweat glands is transported to the skin surface through the lumen. The eccrine sweat gland develops from the initial solid bud to the final gland structure with a lumen, but how the lumen is formed and the mechanism of lumen formation have not yet been fully elucidated. This study aimed to investigate the mechanism of lumen formation of eccrine gland organoids (EGOs).@*METHODS@#Human eccrine sweat glands were isolated from the skin for tissue culture, and the primary cultured cells were collected and cultured in Matrigel for 14 days in vitro. EGOs at different development days were collected for hematoxylin and eosin (H&E) staining to observe morphological changes and for immunofluorescence staining of proliferation marker Ki67, cellular motility marker filamentous actin (F-actin), and autophagy marker LC3B. Western blotting was used to detect the expression of Ki67, F-actin, and LC3B. Moreover, apoptosis was detected using a terminal deoxynucleotidyl transferase dUTP nick end labeling (TUNEL) apoptosis assay kit, and the expression of poly (ADP-ribose) polymerase and Caspase-3 was detected by Western blot. In addition, 3-methyladenine (3MA) was used as an autophagy inhibitor to detect whether the formation of sweat glands can be effectively inhibited.@*RESULTS@#The results showed that a single gland cell proliferated rapidly and formed EGOs on day 4. The earliest lumen formation was observed on day 6. From day 8 to day 14, the rate of lumen formation in EGOs increased significantly. The immunofluorescence and Western blot analyses showed that the expression of Ki67 gradually decreased with the increase in days, while the F-actin expression level did not change. Notably, the expression of autophagy marker LC3B was detected in the interior cells of EGOs as the apoptosis signal of EGOs was negative. Compared with the control group, the autophagy inhibitor 3MA can effectively limit the formation rate of the lumen and reduce the inner diameter of EGOs.@*CONCLUSION@#Using our model of eccrine gland 3D-reconstruction in Matrigel, we determined that autophagy rather than apoptosis plays a role in the lumen formation of EGOs.

Eccrine cell tumor with natural evolution / Tumor de células ecrinas con evolución natural

Abstract Eccrine cell carcinoma constitutes a group of rare skin malignancies which are slow-growing but highly invasive. A case of multiple skin lesions with multifocal involvement, concluding with the histopathological documentation of this condition, is presented. (Acta Med Colomb 2019; 44. DOI:https://doi.org/10.36104/amc.2019.1203).

Resumen El carcinoma de células ecrinas constituye un grupo de neoplasias raras de la piel, de crecimiento lento pero altamente invasor. Se presenta un caso de lesiones cutáneas múltiples con compromiso multifocal que concluye con la documentación histopatológica de esta condición. (Acta Med Colomb 2019; 44. DOI:https://doi.org/10.36104/amc.2019.1203).

Carcinoma mucinoso primario de piel / Primary mucinous skin carcinoma

El adenocarcinoma mucinoso primario de piel es una neoplasia anexial, maligna e infrecuente, que afecta principalmente a hombres en una relación 2:1 con respecto a las mujeres. Presenta mayor incidencia entre la sexta y séptima década de la vida, y se manifiesta como un tumor único, asintomático, de tamaño variable. La localización más frecuente es la región periorbitaria y el cuero cabelludo. Se comunica el caso de una paciente de 92 años, con diagnóstico de carcinoma mucinoso primario de piel, sin evidencia de enfermedad sistémica ni recurrencia local al año de la resección por cirugía micrográfica de Mohs. Describimos sus principales características clínicas, dermatoscópicas y hallazgos histopatológicos. (AU)

Primary mucinous adenocarcinoma of the skin is an adnexal, malignant, and infrequent neoplasm that mainly affects men with a 2: 1 ratio, with respect to women. It presents higher incidence between the sixth and seventh decade of life, and manifests as a single tumor, asymptomatic, of variable size. The most frequent location is the periorbital region and scalp. We report the case of a 92-year-old patient with a diagnosis of primary mucinous skin carcinoma, without evidence of systemic disease or local recurrence one year after resection by Mohs micrographic surgery. We describe its main clinical features, dermatoscopic and histopathological findings. (AU)

Hair Follicle Nevus Located on the Neck: Comparison with Accessory Tragus, Cervical Chondrocutaneous Branchial Remnants and Trichofolliculoma

Hair follicle nevus (HFN) is a rare, benign, follicular hamartoma that most frequently presents as a congenital nodule on the face. We experienced a rare case of HFN on the neck of a 14-year-old boy and performed a pilot immunohistochemical study with cytokeratin 19 (CK19) to compare the staining pattern of hair follicles in HFN and its differential diagnoses, accessory tragus, cervical chondrocutaneous branchial remnants (CCBR) and trichofolliculoma. With hematoxylin and eosin stain, HFN showed numerous tiny hair follicles in the dermis with several sebaceous and eccrine glands, and perifollicular fibrous thickening. With CK19 stain, some hair follicles in HFN and CCBR showed positive expression, a few hair follicles in accessory tragus showed weak expression, and no hair follicles in trichofolliculoma showed expression. The present report supports the view that HFN, accessory tragus and CCBR are within the same spectrum of hamartomas.

Nevo poroqueratósico del ostium y el ducto dérmico ecrinos: reporte de caso / Porokeratotic eccrine ostial and dermal duct nevus: case report

El Nevo Poroqueratósico del Ostium y el Ducto Dérmico Ecrinos (NPODDE), es un raro hamartoma benigno de los conductos de las glándulas sudoríparas ecrinas, puede presentarse desde el nacimiento o también en edades posteriores. Su etiología plantea una alteración en la queratinización debido a una mutación somática en el gen GJB2 que codifica para una proteína de unión gap. Esta mutación también está relacionada con el síndrome KID por lo cual la asesoría genética es crucial en estos pacientes. Clínicamente puede presentarse como hoyuelos hiperqueratósicos en palmas y plantas que normalmente son asintomáticos. El diagnostico se confirma con la histopato-logía que muestra una laminilla cornoide sobre el conducto ecrino subyacente. La entidad es benigna y de difícil tratamiento siendo refractaria a varias modalidades terapéuticas. Se presenta un caso de un paciente adulto masculino con lesiones típicas en palmas y plantas, a quien con la biopsia de piel se le confirmó el diagnóstico de NPODDE. Dado la baja frecuencia de esta condición el objetivo de este artículo radica en actualizar los aspectos más relevantes de esta entidad.

Porokeratotic Eccrine Ostial and Dermal Duct Nevus (PEODDN) is a rare benign hamartoma of eccrine sweat gland ducts, it can present from birth or also at later ages. Its etiology implies an alteration in keratinization due to a somatic mutation in GJB2 gene, that codes for a gap junction protein. This mutation is also associated with KID syndrome so genetic counseling for parents is crucial. Clinically it can present as keratotic pits in palms and soles that are usually asymp-tomatic. The diagnosis is confirmed by histopathology that shows a cornoid lamellae on the underlying eccrine duct. The entity is benign and the treatment is difficult, being refractory to seve-ral therapeutic modalities. We present a case of a male adult patient with typical lesions on palms and soles, who was diagnosed with PEODDN by skin biopsy. Given the low frequency of this con-dition, the objective of this article is to update the most relevant aspects of this entity.

Dermoscopy of squamoid eccrine ductal carcinoma: an aid for early diagnosis

Abstract: Squamoid eccrine ductal carcinoma is a cutaneous malignancy that originates from the eccrine sweat gland. A 76-year-old woman presented with an asymptomatic papule on her nose that had been present for one year. Dermoscopy showed pseudocysts, irregular linear crown vessels, and yellowish-brown globules surrounded by white halos. This is the first dermoscopic description of squamoid eccrine ductal carcinoma. Studies with more cases are needed to confirm the dermoscopic characterization of this tumor.

Differential Innervation of Secretory Coils and Ducts in Human Eccrine Sweat Glands / 中华医学杂志(英文版)

Background@#Previous studies demonstrate that eccrine sweat glands are innervated by both cholinergic and adrenergic nerves. However, it is still unknown whether the secretory coils and ducts of eccrine sweat glands are equally innervated by the sympathetic nerve fibers. To well understand the mechanisms on sweat secretion and reabsorption, the differential innervation of secretory coils and ducts in human eccrine sweat glands was investigated in the study.@*Methods@#From June 2016 to June 2017, six human skins were fixed, paraffin-embedded, and cut into 5 μm-thick sections, followed by costaining for nerve fiber markers protein gene product 9.5 (PGP 9.5), tyrosine hydroxylase (TH) and vasoactive intestinal peptide (VIP), and eccrine sweat gland markers K7, S100P, and K14 by combining standard immunofluorescence with tyramide signal amplification (IF-TSA). Stained sections were observed under the microscope, photographed, and analyzed.@*Results@#The fluorescent signals of PGP 9.5, TH, and VIP were easily visualized, by IF-TSA, as circular patterns surrounding eccrine sweat glands, but only PGP 9.5 could be observed by standard IF. The IF-TSA method is more sensitivity than standard IF in detecting antigens expressed at low levels. PGP 9.5, TH, and VIP appeared primarily surrounding the secretory coils and sparsely surrounding the sweat ducts.@*Conclusion@#Sweat secretion is mainly controlled by autonomic nerves whereas sweat reabsorption is less affected by nerve activity.

Eccrine Poroma with Rapid Growth during Pregnancy: A Case Report and Review of the Literature

Eccrine poroma is a benign solitary tumor with acrosyringeal differentiation that usually occurs on the sole or either side of the foot. Rapid growth of eccrine poroma during pregnancy has rarely been reported. We demonstrate a unique case of a 37-year-old pregnant woman who suffered from enlarged eccrine poroma on her left palm, which was tiny for 10 years but suddenly grew to a size of bean-sized reddish brown colored, pedunculated mass during pregnancy. The patient denied a previous history of trauma or infection to the lesion. Histopathologic findings with a shave biopsy were consistent with eccrine poroma. After the tumor was completely removed by the shave biopsy, no recurrence was noted for 5 months.

Extragenital Lichen Sclerosus Et Atrophicus along the Blaschko's Lines of the Forehead / 대한피부과학회지

Lichen sclerosus et atrophicus (LSA) is a chronic inflammatory dermatosis presenting as white papules and atrophic patches in the anogenital region. Extragenital LSA is rare and commonly affects the neck, thighs, and the trunk. A 68-year-old woman presented with a well-demarcated, whitish linear plaque on the forehead that was observed several months prior to presentation. A biopsy specimen showed hyperkeratosis and thinning of the epidermis and homogenization of collagen in the papillary dermis with a subepidermal cleft. Mild periappendageal lymphocytic infiltration and eccrine gland atrophy secondary to thickening of collagen bundles were observed in the deep dermis. Based on the clinical and histopathological findings, this patient was diagnosed with extragenital LSA and concomitant morphea along the Blaschko's lines.

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.

Trichoblastoma and Compound Nevus Arising from Nevus Sebaceus / 대한피부과학회지

Nevus sebaceous is a common congenital cutaneous hamartoma occurring mainly on the face and scalp. It is well known that secondary neoplasms can be easily observed in the primary lesion. However, a case of trichoblastoma and compound nevus concurrently arising from nevus sebaceous has not been previously reported. A 26-year-old woman presented with a well-demarcated atrophic skin-colored plaque on her scalp from birth. On the plaque, a black dome-shaped round nodule and a brownish nodule with irregular margins were found one week previously without subjective symptoms. Histopathological examination of the central plaque lesion revealed epidermal hyperplasia and hyperplasia of the sebaceous glands and eccrine glands. In addition, ectopic, dilated apocrine glands were revealed in the lower dermis, and the hair follicles remained small and primordial, consistent with nevus sebaceous. A section of the black nodule showed palisading basaloid cells surrounded by abundant fibrous stroma. Nests of nevus cells were found at the dermo-epidermal junction and dermis in the brownish nodule. Based on these findings, the black nodule and brownish nodule were diagnosed as trichoblastoma and compound nevus, respectively. Herein, we report an interesting case of trichoblastoma and compound nevus concurrently arising from nevus sebaceous, which is, to our knowledge, the first such report in the dermatologic literature.

Squamoid eccrine ductal carcinoma

Abstract Squamoid eccrine ductal carcinoma is an eccrine carcinoma subtype, and only twelve cases have been reported until now. It is a rare tumor and its histopathological diagnosis is difficult. Almost half of patients are misdiagnosed as squamous cell carcinoma by the incisional biopsy. We report the thirteenth case of squamoid eccrine ductal carcinoma. Female patient, 72 years old, in the last 6 months presenting erythematous, keratotic and ulcerated papules on the nose. The incisional biopsy diagnosed squamoid eccrine ductal carcinoma. After excision, histopathology revealed positive margins. A wideningmargins surgery and grafting were performed, which again resulted in positive margins. The patient was then referred for radiotherapy. After 25 sessions, the injury reappeared. After another surgery, although the intraoperative biopsy showed free surgical margins, the product of resection revealed persistent lesion. Distinction between squamoid eccrine ductal carcinoma and squamous cell carcinoma is important because of the more aggressive nature of the first, which requires wider margins surgery to avoid recurrence.

Primary Cutaneous Mucinous Carcinoma on the Scalp / 대한피부과학회지

Primary cutaneous mucinous carcinoma (PCMC) is a rare malignant tumor believed to originate from the eccrine gland. It is important to exclude other possible origins of the mucinous carcinoma, such as the breast, lung, gastrointestinal tract, kidney, prostate, and ovary, because PCMC generally shows a better prognosis. Some histopathological clues are helpful to distinguish PCMC from metastatic mucinous carcinoma, but the final diagnosis should be made after a thorough systemic evaluation. We report a case of PCMC after a comprehensive evaluation to exclude metastatic mucinous carcinoma.

Primary Cutaneous Mucinous Carcinoma on the Scalp / 대한피부과학회지

Primary cutaneous mucinous carcinoma (PCMC) is a rare malignant tumor believed to originate from the eccrine gland. It is important to exclude other possible origins of the mucinous carcinoma, such as the breast, lung, gastrointestinal tract, kidney, prostate, and ovary, because PCMC generally shows a better prognosis. Some histopathological clues are helpful to distinguish PCMC from metastatic mucinous carcinoma, but the final diagnosis should be made after a thorough systemic evaluation. We report a case of PCMC after a comprehensive evaluation to exclude metastatic mucinous carcinoma.

Primary Cutaneous Mucinous Carcinoma of the Eyelid

Primary cutaneous mucinous carcinoma (PCMC) is a rare low-grade malignant neoplasm derived from the eccrine glands. PCMC most commonly arises in the head and neck, with the eyelid being the most common site of origin. This case report describes a 51-year-old male with a painless, pigmented superficial nodular lesion over his right lower eyelid. The lesion was considered to be benign, and the initial treatment was simple excision with a 3-mm margin. However, histologic examination revealed the diagnosis of PCMC, and the patient underwent re-excision of the tumor site with an additional 3-mm margin from the initial scar. Histologic study of this second margin was free of any malignant cells. The patient experienced no postoperative complication or recurrence after 2 years. In our case, the skin lesion had benign morphologic findings and was strongly suspected to be a benign mass. Physicians should be aware of this tumor and be able to differentiate it from benign cystic or solid eyelid lesions.

Primary Cutaneous Mucinous Carcinoma of the Eyelid

Primary cutaneous mucinous carcinoma (PCMC) is a rare low-grade malignant neoplasm derived from the eccrine glands. PCMC most commonly arises in the head and neck, with the eyelid being the most common site of origin. This case report describes a 51-year-old male with a painless, pigmented superficial nodular lesion over his right lower eyelid. The lesion was considered to be benign, and the initial treatment was simple excision with a 3-mm margin. However, histologic examination revealed the diagnosis of PCMC, and the patient underwent re-excision of the tumor site with an additional 3-mm margin from the initial scar. Histologic study of this second margin was free of any malignant cells. The patient experienced no postoperative complication or recurrence after 2 years. In our case, the skin lesion had benign morphologic findings and was strongly suspected to be a benign mass. Physicians should be aware of this tumor and be able to differentiate it from benign cystic or solid eyelid lesions.

First case of congenital idiopathic hypohidrosis in China

AbstractA 43-year-old Chinese man presented with generalized hypohidrosis, which he had had since birth, without obvious abnormalities of other skin appendages except a sparse beard and axillary hairs. The sweat test revealed localized sweating on the face, axillae and palms. Histopathologic examination showed that the sweat glands were absent in the forearm and thigh, but some eccrine and apocrine sweat glands were present in the right axilla. S-100 was expressed in the nerve terminals surrounding the acini and ducts of the eccrine sweat glands, while PGP9.5 was positive in the acini of apocrine glands and the nerve terminals surrounding the eccrine glands in the axilla. To our knowledge, this is the first case of congenital idiopathic hypohidrosis in China.

Solitary eccrine syringofibroadenoma - Case Report

Eccrine syringofibroadenoma is a rare benign adnexal neoplasm derived from cells of the acrosyringium of eccrine sweat glands. ESFA usually manifests as a solitary nodule on the extremities of elderly patients, but it may also present as papules, nodules or plaques. Its clinical appearance is nonspecific and malignant neoplasms should beconsidered in the differential diagnosis. However, histopathological findings are typical. The main treatment is surgical excision. In order to illustrate a typical presentation of the tumor, we report a case of solitary eccrine syringofibroadenoma, including the surgical treatment used and its result.