Síndrome de Gorlin-Goltz. Diagnóstico molecular, nuevos tratamientos / Gorlin-Goltz syndrome. Molecular diagnosis, new treatments

Introducción: El síndrome de Gorlin-Goltz o síndrome de carcinoma de nevo basocelular es un desorden hereditario autosómico dominante que predispone principalmente a la proliferación de múltiples carcinomas basocelulares, queratoquistes odontogénicos y defectos del desarrollo, causados por la mutación del gen Patched localizado en el cromosoma 9. Presentación del caso: Se reporta un paciente con características de este síndrome, en la clínica de COMF de la UNAM. El diagnóstico fue basado en los estudios clínicos, imagenológicos y moleculares. Conclusiones: El conocimiento de esta enfermedad puede orientarnos a la sospecha diagnóstica de lesión quística o premaligna en forma oportuna, lo que permite prevenir complicaciones y brindar un tratamiento integral para así mejorar la calidad de vida de este tipo de pacientes (AU)

Introduction: Gorlin-Goltz syndrome or cell-based nevus carcinoma syndrome is an autosomal dominant inherited disorder that predisposes mainly to the proliferation of multiple basal cell carcinomas, maxillary keratocysts and developmental defects, caused by the mutation of the Patched gene located on chromosome 9. Case presentation: A patient with specific characteristics compatible with this syndrome was reported in the COMF Department of the UNAM. The diagnosis was based on clinical studies, radiology and genetic studies. Conclusions: Knowledge of this problem can guide us to the diagnostic suspicion in a timely manner, thus preventing complications, and to provide an improved integral treatment of the quality of life of this type of patients (AU)

Cutaneous inflammation as a marker of malignant transformation in a patient with linear unilateral basaloid follicular hamartoma

Basaloid follicular hamartoma is a rare, benign and superficial malformation of hair follicles, characterized histologically by epithelial proliferation of basaloid cells with radial disposition. It can be mistaken for basal cell carcinoma. Even though these hamartomas are considered benign lesions, malignant transformation has rarely been reported. We report the case of a 45-year-old healthy woman, with linear, unilateral basaloid follicular hamartoma which developed inflamed papules histologically suggestive of basal cell carcinoma. We believe that identification of local inflammation could be a clinical clue to guide us towards a malignant transformation of basaloid follicular hamartoma.

Clinicopathological analysis of 3 cases of trichoblastoma / 重庆医学

Objective To summarize and study the clinicopathologic features,diagnosis and differential diagnosis of tricho-blastoma (TB).Methods The clinicopathological characteristics,histomorphology features and immunophenotype features of TB and differential diagnosis with multiple diseases in 3 cases of TB were retrospectively analyzed;moreover,5 cases of basal cell carci-noma were selected and performed the immunophenotype detection,which focused on the differential diagnosis with TB.Results The masses in 3 cases were located under the skin without connecting with the epidermis and were composed of basal-like cells with palisade arrangement of peripheral cells.The case 1 showed unequal-sized multiple cyst cavities and pigment deposition and was di-agnosed as pigmented TB.The papillary mesenchymal bodies were found in case 2,which was diagnosed as TB.The basal cells of tumor in case 3 distributed as palisade arrangement and formed the wave structure,which was diagnosed as rippled-pattern TB.AR in 3 cases and Bcl-2 in 2 cases were negative expression,CK20 in 1 case was sporadically positive,CD10 stroma and papillary struc-ture in 3 cases were positive,paliform-like arrange tumor cells CD10 around basal cell carcinomas in 5 cases were positive,AR in 4 cases was positive,Bcl-2 in 3 cases was positive and CK20 in 5 cases was negative.Conclusion TB is a benign tumor derived from the hair follicle germinal epithelium with a good prognosis after complete resection and the differential diagnosis focuses on basal cell carcinomas.

Clinicohistopathological Study of Multiple Basal Cell Carcinomas: A Single-center Study / 대한피부과학회지

BACKGROUND: Basal cell carcinoma (BCC) is the most common malignant skin tumor. Some studies reported that the number of patients who develop more than one BCC is increasing. To date, however, the characteristics of patients with multiple BCCs are not well elucidated in the Korean literature. OBJECTIVE: To investigate the incidence and characteristics of patients with multiple BCCs in Korea. METHODS: Fifty nine patients confirmed as having more than two BCCs treated in Pusan National University Hospital over a 16-year period were included. We reviewed the clinical records of these patients. RESULTS: Among a total of 933 patients with BCC treated in our hospital over 16 years, 59 patients (6.3%) had multiple BCCs. Multiple BCCs were identified simultaneously on the date of diagnosis in 41 patients (69.4%), and there was a mean interval of 9.2 months between the first and subsequent lesion. There were 132 BCC lesions in 59 patients, located mainly on nose (39.2%) and cheek (22.5%). Fifty (84.7%) of the 59 patients had the same anatomical site of their BCC lesions, and 9 (15.3%) of 59 patients had a different anatomical site of their BCC lesions. CONCLUSION: This study showed that subsequent BCCs are located near the first BCC. When encountering patients with BCC, physician should look closely around the lesion with consideration for multiple BCCs. Furthermore, the occurrence of new BCCs as well as recurrence should be evaluated during follow-up.

Combination Nasolabial Transposition Flap and Island Pedicle Flap Following Mohs Surgery of Simultaneous Basal Cell Carcinomas Involving Both Nasal Alae

The nasal ala is a challenging area for surgical reconstruction, with thick sebaceous skin, the lack of an ample tissue reservoir, and an adjacent free margin. Numerous flaps have been reported for the repair of alae defects. A 71-year-old woman with simultaneous basal cell carcinomas involving both nasal alae was treated by Mohs micrographic surgery. The surgical defects measured 1.5x1.5 cm on the center of the right nasal ala and 1.0x1.0 cm on the left nasal ala, including the alar crease and rim. The right nasal ala was used as a nasolabial transposition flap and the left nasal ala was reconstructed by an island pedicle flap. The final shape and texture were satisfactory. The flaps survived and nasal symmetry was preserved. Combined nasolabial transposition and island pedicle flaps thus offer a superior esthetic and functional result owing to minimized tension. This may be a valuable reconstructive option in the repair of bilateral nasal alae defects.

A Case of Multiple Basal Cell Carcinomas

The multifactorial etiology of BCC(basal cell carcinoma) are incompletely understood, including factors leading to multiple lesions in some patients. Cases of multiple BCCs reported in the literature have been associated with UV irradiation, inorganic arsenic poisoning, X-ray therapy, hematologic malignancy and several genodermatoses such as nevoid BCC syndrome, albinism, xeroderma pigmentosum. Multiple BCCs presented on the sun-protected areas, lacking predisposing risk factors which have been known, is rare skin condition. However, it suggests that there may be an unknown genetic susceptibility to the development of multiple BCCs. We report a rare case of multiple BCCs, which had developed only on the sun-protected areas in 64-year-old man, without any known predisposing causes.

Multiple basal cell carcinoma associated with keratoacanthoma

We report a case of multiple basal cell carcinoma associated with keratoacanthoma. A 65-year-old Korean female had suffered from multiple, variable-sized papules and nodules on the face for 20 years previous to treatment. She had no history of arsenic intake, irradiation, herb medication, or hereditable or preexisting dermatoses. Histopathologically, the tumors revealed typical findings of solid and adenoid types of basal cell carcinoma and keratoacanthoma.