Gorlin-Goltz syndrome (GGS) also known as Nevoid Basal Cell Carcinoma Syndrome is a rare autosomal-dominant disorder characterized mainly by the presence of multiple basal cell carcinomas (BCC), odontogenic keratocysts of the jaw and palmar pits. This syndrome is associated with a wide spectrum of developmental anomalies and neoplasms. A case of familial Gorlin-Goltz syndrome with many of the common manifestations is reported. A 29 year-old woman and her 50 year-old mother with GGS are presented. The disease started respectively at the age of 18 and 22, with multiple basal cell carcinomas on the face and upper extremities. Because of multiple odontogenic keratocysts of the jaws they two have been treated surgically. Clinical, cranial CT, histological and dermoscopy images from both patients were obtained. Multiple BCC in the mother and the daughter were detected, nodular and superficial spreading, 10 -30 mm in diameter. The daughter has many pits on her palms. Palmar pits have a characteristic dermoscopy with red globules inside the fleshcolored, slightly depressed lesions. The histological examinations revealed different histological variants of BCC. The X-rays examination showed two jaw cysts in the daughter, calcifications of the brain falx and bridges of the sella turcica in both patients. The BCC in the patients were treated with cryosurgery and surgical excisions with good results. The patients are followed up. In conclusion our case demonstrated multisystemic involvement of GGS. The combination of clinical, imaging and histological findings is helpful in identifying GGS patients. It is important to make an early diagnosis and a proper management in GGS, which may have cancer predisposition. The genealogical analysis is important for the determination of the genetic risk and the prognosis for the proband's relatives.

Background Kindler Syndrome (KS) is a rare genodermatosis characterized by skin fragility, skin atrophy, premature aging and poikiloderma. It is caused by mutations in the FERMT1 gene, which encodes kindlin-1, a protein involved in integrin signalling and the formation of focal adhesions. Several reports have shown the presence of non-melanoma skin cancers in KS patients but a systematic study evaluating the risk of these tumors at different ages and their potential outcome has not yet been published. We have here addressed this condition in a retrospective study of 91 adult KS patients, characterizing frequency, metastatic potential and body distribution of squamous cell carcinoma (SCC) in these patients. SCC developed in 13 of the 91 patients. Results The youngest case arose in a 29-year-old patient; however, the cumulative risk of SCC increased to 66.7% in patients over 60 years of age. The highly aggressive nature of SCCs in KS was confirmed showing that 53.8% of the patients bearing SCCs develop metastatic disease. Our data also showed there are no specific mutations that correlate directly with the development of SCC; however, the mutational distribution along the gene appears to be different in patients bearing SCC from SCC-free patients. The body distribution of the tumor appearance was also unique and different from other bullous diseases, being concentrated in the hands and around the oral cavity, which are areas of high inflammation in this disease. Conclusions This study characterizes SCCs in the largest series of KS patients reported so far, showing the high frequency and aggressiveness of these tumors. It also describes their particular body distribution and their relationship with mutations in the FERMT-1 gene. These data reinforce the need for close monitoring of premalignant or malignant lesions in KS patients.

Neurofibromatosis (NF) is a term that has been applied to a variety of related syndromes, characterized by neuroectodermal tumors arising within multiple organs and autosomal-dominant inheritance. Neurofibromatosis type I (NF-1), known as well as Recklinghausen's disease, is the most common type of the disease accounting 90% of the cases. We present a case of 52-year-old men with NF-1. The disease started in childhood with the appearance of multiple hyperpigmented skin macules. At the age of 46 a lot of cutaneous tumors appeared and started growing bigger all over the body surface. Because of a vision problem due to an upper left eyelid neurofibroma, the patient came for a clinical examination at the age of 52 years.

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The acral peeling skin syndrome (APSS) is a rare autosomal recessive disorder clinically characterized by asymptomatic desquamation of the skin limited to the hands and feet and histologically by cleavage at the stratum granulosum and stratum corneum level [Kiritsi et al.: J Invest Dermatol 2010;130:1741-1746]. We report on a 10-month-old boy with a history of skin peeling limited to the hands and feet since 2 months of age. Clinical examination revealed erythematous erosions with peripheral desquamation and flaccid blisters. DNA mutation analysis detected two heterozygous TGM5 mutations: c.2T>C, p.M1T in exon 1 and c.337G>T, p.G113C in exon 3 in keeping with the diagnosis of APSS. The clinical presentation of APSS alone might be confusing and strongly resemble epidermolysis bullosa simplex making the differential diagnosis difficult.