Management of albinism: French guidelines for diagnosis and care.

Albinism is a worldwide genetic disorder caused by mutations in at least 20 genes, identified to date, that affect melanin production or transport in the skin, hair and eyes. Patients present with variable degrees of diffuse muco-cutaneous and adnexal hypopigmentation, as well as ocular features including nystagmus, misrouting of optic nerves and foveal hypoplasia. Less often, albinism is associated with blood, immunological, pulmonary, digestive and/or neurological anomalies. Clinical and molecular characterizations are essential in preventing potential complications. Disease-causing mutations remain unknown for about 25% of patients with albinism. These guidelines have been developed for the diagnosis and management of syndromic and non-syndromic forms of albinism, based on a systematic review of the scientific literature. These guidelines comprise clinical and molecular characterization, diagnosis, therapeutic approach and management.

Mucocutaneous manifestations of cocaine abuse: a review.

Cocaine is an alkaloid extracted from the leaves of the Erythroxylum coca plant that emerged in the 1970s as a fashionable drug among members of certain social backgrounds. Cocaine abuse is a problem of current interest, which is mostly hidden and underdiagnosed, but dramatically widespread among all socio-economic strata, and with an incidence which is increasing at an alarming rate. There are 1.5 million cocaine consumers in the USA. In Spain, the prevalence of consumption among the population between 15 and 65 years old is higher, reaching 3.1%. Because of this, it seems important to understand and recognize all the mucocutaneous manifestations of cocaine abuse which have been reported in the literature to clarify and to help dermatologists in their daily practice. In this article, we describe the principal mucocutaneous manifestations of cocaine abuse and we review isolated case reports which have been published in the literature. Because the dermatologist may deal with an unknown problem as well as with an already well-known history of cocaine abuse, it seems logical to separate the mucocutaneous manifestations into those which are frequent and highly suggestive, such as those caused by vascular injury, damage to mucosal membranes, infectious diseases or neutrophilic dermatosis, especially when suffered by young people and in consonance with other systemic manifestations and, those which have been reported in the literature as isolated case reports. We also summarize the main aspects of its pathogeny, principal pharmacodynamic and pharmacokinetic characteristics, and diagnostic tools.

Infantile hemangiomas with minimal or arrested growth associated with soft tissue hypertrophy: a case series of 10 patients.

BACKGROUND: Infantile hemangiomas with minimal or arrested growth (IH-MAGs) are characterized by a proliferative component of <25% of its surface area. The co-occurrence of IH-MAGs and soft tissue anomalies is rare, and case series of this association are lacking. OBJECTIVE: We present 10 cases of IH-MAGs associated with soft tissue hypertrophy and describe their clinical features. METHODS: We reviewed all infantile hemangiomas with minimal or arrested growth seen between 2009 and 2016 in the dermatology clinic department at Hospital Santa Creu i Sant Pau, Barcelona. To collect more patients, we also requested cases from the Hemangioma Investigator Group and members of the Spanish Society of Vascular Anomalies. RESULTS: Ten patients had IH-MAGs associated with soft tissue hypertrophy; seven involving the arm and three involving the leg. All displayed a segmental pattern, a doughy and puffy texture and prominent surface veins. No significant asymmetries in limbs and no other visceral anomalies were observed at follow-up (range 15 months to 7 years). One patient reported coldness in the limb with infantile hemangioma, but RMI-angiography did not disclose a vascular malformation underneath the lesion. Ulceration was observed in three patients. The proliferative component in all IH-MAGs had faded at 1-year follow-up, while soft tissue hypertrophy and prominent vessels remained unchanged. CONCLUSIONS: In this first case series of IH-MAGS associated with soft tissue hypertrophy, soft tissue hypertrophy was not progressive and remained unchanged over time, unlike the proliferative component of classic infantile hemangioma. The origin of the prominent vessels and the higher ulceration risk are unknown; however, these findings are probably related to a minor disruption of local vessels not detected in imaging tests.

Logarithmic spiral flap for circular or oval defects on the lateral surface of the nose and nasal ala: a series of 15 cases.

INTRODUCTION: A large number of flaps, particularly rotation and transposition flaps, have been described for the closure of skin defects left by oncologic surgery of the nose. The logarithmic spiral flap is a variant of the rotation flap. MATERIALS AND METHODS: We present a series of 15 patients with different types of skin tumor on the nose. The skin defect resulting from excision of the tumor by micrographic surgery was reconstructed using various forms of the logarithmic spiral flap. There are 3 essential aspects to flap design: commencement of the pedicle at the upper or lower border of the wound, a width of the distal end of the flap equal to the vertical diameter of the defect, and a progressive increase in the radius of the spiral from the distal end of the flap to its base. RESULTS: The cosmetic and functional results of surgical reconstruction were satisfactory, and no patient required additional treatment to improve scar appearance. CONCLUSION: The logarithmic spiral flap is useful for the closure of circular or oval defects situated on the lateral surface of the nose and nasal ala. The flap initiates at one of the borders of the wound as a pedicle with a radius that increases progressively to create a spiral. We propose the logarithmic spiral flap as an excellent option for the closure of circular or oval defects of the nose.