Basal cell nevus syndrome in a 48-year-old male

@#Introduction: Basal cell nevus syndrome is not a common disorder. It has an estimated prevalence of 1 in 57,000-164,000 persons.1,2 It presents as a spectrum of phenotypic abnormalities that include developmental anomalies and postnatal tumors, particularly basal cell carcinomas. More than 100 clinical abnormalities have been reported in patients with basal cell nevus syndrome. The most typical features include: (1) basal cell carcinomas; (2) palmar and/or plantar pits; and (3) odontogenic cysts of the jaw. Early diagnosis of basal cell nevus syndrome is imperative to prevent developmental delay and increased risk for physical impairment. Case report: This case involves a 48-year-old Filipino male who showed multiplewell-defined hyperpigmented gray-black papules and nodules on the scalp, face, trunk, and back. Pertinent family history revealed three family members with multiple biopsy-proven basal cell carcinomas. On physical examination, the patient was noted to have frontal bossing and multiple palmar and plantar pits. Dermoscopy and skin punch biopsy of multiple sites were consistent with basal cell carcinoma, both superficial and nodular subtypes. Additional work-up included a panoramic x-ray of the jaw, which revealed a solitary odontogenic cyst on the left. A plain cranial MRI was also done, revealing thickened and hypointense falx cerebri suggestive of calcifications. Conclusion: Based on the presence of multiple biopsy-proven basal cell carcinomas, multiple palmar and plantar pits, and the solitary odontogenic cyst, the patient was diagnosed with basal cell nevus syndrome. Other findings that aid in the diagnosis are the presence of frontal bossing and calcifications of the falx cerebriin the patient.

Tumor check through teledermatology: A critical appraisal

@#Original article: Kroemer S, Frühauf J, Campbell T, Massone C, Schwantzer G, Soyer H, Hofmann-Wellenhof R. Mobile teledermatology for skin tumour screening: diagnostic accuracy of clinical and dermoscopic image tele-evaluation using cellular phones. Br J Dermatol. 2011;164(5):973-979. Aim: The original article aimed to evaluate the diagnostic accuracy of clinical and dermoscopic image tele-evaluation for mobile skin tumor screening. Setting and population: The tumors examined in the study were selected prospectively from an outpatient clinic in Graz, Austria in a duration of 3 months. They are from men or women with benign and/or malignant skin tumors of either melanocytic or non-melanocytic origin. A total of 104 tumors from 80 patients using a mobile phone camera were gathered. The lesions were from the head and neck area, trunk, legs and feet and genital area. Study examination: A board-certified dermatologist with clinical expertise in teledermatology and dermoscopy reviewed the clinical and dermoscopic pictures with clinical information separately. The results from the review of the pictures were compared with those obtained by face-to-face examination and the gold standard face-to-face examination plus histopathology. Outcome: Tumors were classified under four categories: benign non-melanocytic, benign melanocytic, malignant non-melanocytic and malignant melanocytic. The table (Table 1) below shows the final diagnoses of the skin tumors examined per category. Results: Among these 104 lesions, 25 (24%) benign non-melanocytic, 15 (14%) benign melanocytic, 58 (56%) malignant non-melanocytic and six (6%) malignant melanocytic lesions were identified. Clinical and dermoscopic tele-evaluations showed high sensitivity and specificity. For malignant non-melanocytic tumors, sensitivity for both clinical and dermoscopic lesions is 97%; specificity for clinical and dermoscopic lesions are 91& and 94%, respectively. For classifying malignant melanocytic lesions, sensitivity for both clinical and dermoscopic lesions is 100% while specificity is 98% and 97%, respectively Conclusion: Clinical image tele-evaluation might be the method of choice for mobile tumor screening. Both clinical image tele-evaluation and teledermoscopy achieved excellent and equally high concordance rates with the gold standard.

Basal cell nevus syndrome in a 56-year old Filipino female: A case report

Introduction@#Basal cell nevus syndrome (BCNS) (Gorlin-Goltz syndrome or Nevoid basal cell carcinoma syndrome) is a rare inherited multisystem and tumor-predisposing disorder caused by the patched tumor suppressor gene mutations and suppressor of fused gene. Its diagnosis follows a set of criteria based on specific cutaneous features and radiologic findings. Although an autosomal dominant disorder with a high degree of penetrance, BCNS has variable expression making its diagnosis difficult. The limited epidemiologic data among Asians especially in the Philippines hamper early detection or cause frequent misdiagnosis of the condition.@*Case report@#A 56-year-old Filipino female with Fitzpatrick skin type V presented with early onset multiple basal cell carcinomas and bilateral palmoplantar pits. Radiologic investigation reveals odontogenic keratocyst, calcification of the falx cerebri, bridging of the sella turcica, bifid/splayed ribs and vertebral anomalies. The patient exhibits coarse facial features and bilateral cataracts. Cranial computed tomography scan shows cerebrocerebellar atrophy with ventricular dilatation. Management included wide excision of the nodular basal cell carcinomas (BCC), application of 5-flourouracil cream on the superficial BCC and electrodessication and curettage of the smaller lesions. Oral acitretin was also prescribed.@*Conclusion@#This is a case that highlights the approach to diagnosis, clinical features and management of BCNS in a Filipino patient. Since various phenotypic presentations may exist among dark-skinned individuals, early diagnosis poses a challenge among physicians. Epidemiologic and prevalence studies among Filipinos may be done to aid in the diagnosis and early management of this rare genodermatosis.