Primary cutaneous SMARCA4-deficient undifferentiated malignant neoplasm: A rare case report and literature review.

Primary cutaneous SMARCA4-deficient undifferentiated malignant neoplasm (SD-UMN) is a rare and recently described entity characterized by the loss of expression of the SMARCA4 (BRG1) protein, which is involved in chromatin remodeling. SD-UMN presents a diagnostic challenge due to its rarity and unique histopathological and immunohistochemical features. In this report, we present a case of primary cutaneous SD-UMN in a 67-year-old man who presented with a rapidly growing, ulcerated, and bleeding nodule on his right cheek. Histopathological examination revealed a highly cellular dermal tumor consisting of pleomorphic epithelioid cells with prominent mitotic figures and necrosis, lacking any morphological evidence of differentiation. Immunohistochemical analysis showed a complete loss of SMARCA4 and SMARCA2 expression, while INI-1 expression remained intact. p53 was diffusely expressed, and p16 was completely absent. In addition, a range of markers, including high-molecular-weight cytokeratin, p63, SOX10, INSM1, MCPyV, NKX2.2, CD99, CDX2, CD56, ERG, NUT, desmin, androgen receptor, chromogranin, CD34, and CD43 were all negative. To date, only two cases of primary cutaneous SMARCA4-deficient undifferentiated tumors have been reported in the literature. Therefore, this case report adds to the limited body of knowledge on the clinical and histopathological features of this novel entity. The report highlights the importance of considering SD-UMN in the differential diagnosis of undifferentiated cutaneous tumors.

Folliculitis decalvans treated with radiation therapy.

A 33-year-old black man presented with folliculitis decalvans resistant to multiple oral and topical therapies. The patient ultimately responded to radiation therapy.

Eruptive syringomas: an unusual presentation on the buttocks.

Syringomas are benign, eccrine, sweat gland tumors. Eruptive syrin-gomas are rare variants that typically develop on the body's anterior surface. We present the case of a 21-year-old black man with multiple, eruptive, asymptomatic syringomas on his buttocks that had persisted for 3 months. This case is unusual in that the patient's age, race, and sex and the location of the lesions are not considered typical for eruptive syringomas. We also present a review of eruptive syringomas and recent literature.

Exogenous and endogenous cutaneous anomalies and curiosities.

Exogenous and endogenous substances can produce some interesting cutaneous abnormalities. Exogenous lesions are externally introduced materials or foreign bodies. Endogenous lesions are substances that result from tissue host response to an injury or physical insult. There may be an overlap of these endogenous and exogenous lesions such that externally introduced materials can lead to peculiar tissue reactions. Pathologists should be aware of these anomalies as many of them can simulate neoplasms (ie, Monsel's reaction, polyvinylpyrrolidone disease, silica reaction) and inflammatory (ie, paraffinoma) and infectious processes (ie, Drysol(R) reaction and Lycopodium granuloma). The most interesting and important entities within each of these categories are presented with essential clinical and pathologic descriptions.

Cobb syndrome associated with a verrucous (angiokeratomalike) vascular malformation.

Cobb syndrome is defined by a cutaneous vascular lesion and a corresponding spinal cord vascular malformation within a segment or two of the involved dermatome. Even though Cobb syndrome has been reported in association with various cutaneous vascular lesions, to our knowledge, only one other previous report describes verrucous changes overlying the cutaneous vascular lesion. We describe a patient with verrucous vascular malformation extending from his right chest to his right upper back in a dermatomal distribution. The patient's medical history included excision of a cavernous vascular malformation from the corresponding segment of his thoracic spinal cord 4 years prior, reversing 7 years of progressive leg weakness and neural deficits. Cobb syndrome was diagnosed based on the dermatomally distributed vascular malformation and the corresponding spinal cord vascular malformation. His skin lesions initially improved with erbium: YAG laser treatment but later recurred. This is the second reported case of Cobb syndrome associated with verrucous angiokeratomalike changes overlying the cutaneous vascular malformation. Because of the potentially severe neurologic sequelae caused by spinal cord lesions, clinicians should evaluate patients with dermatomally distributed cutaneous lesions on the trunk or extremities, including vascular malformations with verrucous features.

Reiter's syndrome.

Reiter's syndrome is a multisystem disease commonly triggered by a genitourinary infection or bacterial enteric infection. After a short latent period, ocular symptoms, oligoarthritis, and mucocutaneous involvement may occur. Classic cutaneous manifestations of Reiter's syndrome include keratoderma blennorrhagicum and balanitis circinata, both of which are microscopically similar to pustular psoriasis.

Chondroid syringoma.

We present the case of a 25-year-old man who presented with a slowly enlarging nodule on the upper lip. This nodule first appeared after minor trauma to the area. Our original differential diagnosis included foreign body granuloma, mucocele, inclusion cyst, and adnexal tumor. Histopathology results showed an encapsulated tumor consisting of 2 discrete lobules composed of numerous aggregates of cuboid epithelial cells with tubuloalveolar structures and keratinous cysts within a chondroid stroma-consistent with a chondroid syringoma. We compare and contrast the clinical and histologic characteristics of chondroid syringomas (arising from sweat glands) with those of pleomorphic adenomas (arising from salivary glands).

Embryonal rhabdomyosarcoma presenting in an adult: a case report and discussion of immunohistochemical staining.

Embryonal rhabdomyosarcoma is the most common soft tissue sarcoma of childhood but is rarely seen in adults. We report an embryonal rhabdomyosarcoma of the cheek in a 21-year-old Filipino man presenting as a rapidly enlarging mass. An incisional biopsy was consistent with embryonal rhabdomyosarcoma. The patient failed to respond to one cycle of chemotherapy after initial diagnosis and workup for metastatic disease. Wide local excision of the tumor was then completed with the use of the Mohs technique to clear the glabrous cutaneous margins during surgery. A Mohs surgeon and dermatopathologist were involved in interpretation of the Mohs sections. Subsequent immunohistochemical staining revealed a poorly differentiated spindled and epithelioid cell tumor, which stained diffusely positive for vimentin, S-100, and MyoD1. Rare rhabdomyoblasts were present and stained positively for desmin, muscle-specific actin, and phosphotungstic acid hematoxylin. The patient subsequently underwent radiation therapy for a total of 6,000 cGy, followed by two cycles of chemotherapy. The patient continues to be disease-free at 22 months after his wide local excision.

Congenital tufted angioma.

A 7-year-old Filipino girl presented to the dermatology clinic with a slowly enlarging plaque on the inner aspect of her upper left arm. Although she had this lesion since birth, it had gradually enlarged and become indurated and slightly painful. The histopathologic examination showed a vascular proliferation within the dermis, with a "cannonball" appearance consistent with a tufted angioma. We review the literature and discuss the clinical presentation of this rare vascular tumor.

Acne treatment with a 1,450 nm wavelength laser and cryogen spray cooling.

BACKGROUND AND OBJECTIVES: A laser with a wavelength in the mid-IR range targeting the depth in skin where sebaceous glands are located in combination with cryogen spray cooling was evaluated for treatment of acne. In this non-ablative treatment, the laser energy heats the dermal volume encompassing sebaceous glands whereas the cold cryogen spray preserves the epidermis from thermal damage. STUDY DESIGN/MATERIALS AND METHODS: Monte Carlo simulations and heat transfer calculations were performed to optimize the heating and cooling parameters. A variety of heating and cooling parameters were tested in an in vivo rabbit ear study to evaluate the histological effect of the device on sebaceous glands and skin. Similar experiments were performed on ex vivo human skin. A clinical study for the treatment of acne on backs of human males was also conducted. RESULTS: Monte Carlo simulations and heat transfer calculations resulted in a thermal damage profile that showed epidermal preservation and peak damage in the upper dermis where sebaceous glands are located. Ex vivo human skin histology confirmed the damage profile qualitatively. In vivo rabbit ear histology studies indicated short-term thermal alteration of sebaceous glands with epidermal preservation. In the human clinical study on the back, a statistically significant reduction in lesion count on the treated side compared to the control side was seen (p < 0.001). Side effects were transient and few. CONCLUSIONS: The studies reported here demonstrate the feasibility of treating acne using a photothermal approach with a mid-IR laser and cryogen cooling.