Prenatal recognition of cerebriform sebaceous naevus.

Cerebriform sebaceous naevus (CSN) is a rare morphological sebaceous naevus variant and challenging to diagnose prenatally due to its flat, smooth and waxy appearance and lack of association with extracutaneous manifestations.A multigravida was referred to our tertiary obstetric unit at 24 weeks of gestation for evaluation of fetal auricular lesions. We were able to further characterise the lesions via serial obstetric ultrasound imaging with the aid of three-dimensional (3D) technology. Although the precise diagnosis prenatally was uncertain, the use of 3D technology allowed the reconstruction of the fetal cutaneous lesions for multidisciplinary assessment to facilitate the development of a neonatal management plan. The diagnosis of CSN was made postnatally on biopsy.

Inguinal lymph nodes agenesia in a patient with Schimmelpenning-Feuerstein-Mims syndrome with proven somatic KRAS mutation.

Schimmelpenning-Feuerstein-Mims (SFM) syndrome is a neurocutaneous disorder that can affect many body systems. The principal and most characteristic anomalies are craniofacial naevus sebaceous in association with neurological, ocular and skeletal findings. The presence of vascular malformations in this condition is unusual; nevertheless, vascular malformations have been suggested by many authors to be part of the spectrum of the same disease. Few cases have been published on the association of SFM with lymphatic malformations. This syndrome is categorized as a mosaic RASopathy due to postzygotic mutations in the HRAS, KRAS or NRAS genes. These genes are involved in the RAF-MEK-ERK signalling pathway, which is activated by mutant cells, increasing cellular proliferation. These mutations have been found only in naevus sebaceous cells, and may be also the explanation for many of the associated pathologies. We report a case of an 18-year-old boy diagnosed with SFM syndrome associated with lymphatic malformation in the legs and agenesia of the inguinal lymph nodes. The lymphatic alterations were diagnosed by gammography of the legs. The genetic diagnosis was confirmed by the presence of a KRAS postzygotic mutation in naevus sebaceous cells of a skin specimen. Genetically confirmed cases of mosaic RASopathies should be used to more accurately characterize phenotypic presentations of this syndrome and develop a future therapeutic strategy, such as molecular targeted therapy.

Dermoscopic aspect of verrucous epidermal nevi: new findings

Background/aim: Verrucous epidermal nevi are cutaneous hamartomas with many clinical variants. Dermoscopic features of verrucous epidermal nevus have rarely been investigated. We aimed to identify dermoscopic findings of the entity which will facilitate the diagnostic process by reducing the use of invasive diagnostic methods. Materials and methods: The study included the patients with histopathologically approved verrucous epidermal nevus. Clinical, dermoscopic, and histopathological features of the patients were retrospectively reviewed and the findings identified were recorded. Dermoscopic examination was performed with a polarized-light handheld dermoscope with 10-fold magnification. Results: The most common dermoscopic features were thick brown circles, thick brown branched lines, and terminal hairs. The most common vessel pattern was dotted vessels. Branched thick brown lines, brown globules, brown dots forming lines, serpiginous brown dots, white and brown exophytic papillary structures, fine scale, thick adherent scale, and cerebriform structures were the other findings. Conclusion: We observed many vascular and nonvascular dermoscopic findings which were not described previously for the entity. Dermoscopic examination of the verrucous epidermal nevi may lead to more reliable clinical interpretation and thus may reduce the need for histopathological investigation.

Dermoscopy of Adnexal Tumors.

Cutaneous adnexal tumors include lesions with apocrine, eccrine, follicular, sebaceous, and mixed differentiation. Most are benign and sporadic, although malignant forms are occasionally observed and some cases develop in the setting of inherited syndromes. These tumors often cause immense diagnostic difficulty. Dermoscopy is a noninvasive technique that has greatly improved the diagnostic accuracy of different skin lesions, including these tumors. We provide a review of the literature on the dermoscopic structures and patterns associated with adnexal tumors. Most patterns associated with this kind of tumor are nonspecific and are observed in other nonadnexal tumors, especially in basal cell carcinomas.

Dermatoscopy of Common Lesions in Pediatric Dermatology.

The use of dermatoscopy to assist in the diagnosis of a variety of proliferative, pigmentary, inflammatory, infectious, congenital, and genetic cutaneous and skin appendage disorders is constantly increasing, as it is effective, affordable, noninvasive, and quick to perform.

Dermoscopy of verrucous epidermal nevus: large brown circles as a novel feature for diagnosis.

BACKGROUND: The epidermal nevus is a hamartomatous proliferation of the epithelium that can involve keratinocytes, sebaceous glands, the pilosebaceous unit, and eccrine or apocrine glands. It occurs in one in 1000 live births and most commonly presents as the verrucous type. Dermoscopy is a non-invasive technique commonly used to differentiate between melanocytic and non-melanocytic lesions. OBJECTIVES: This study was performed to analyze dermoscopic aspects of verrucous epidermal nevi, which have not previously been described. METHODS: Dermoscopic analyses of eight different verrucous epidermal nevi were conducted. Each lesion was excised, and its diagnosis was histopathologically confirmed. RESULTS: In non-melanocytic lesions, a new dermoscopic feature of large brown circles was observed. This characteristic is useful in the diagnosis of verrucous epidermal nevi. CONCLUSIONS: Large brown circles represent a specific dermoscopic feature for the diagnosis of verrucous epidermal nevus.