Search

The aim of this study was to define the skin patterns at high risk for upper airway infantile haemangioma. A retrospective multicentre French observational study was conducted between January 2006 and January 2015 and all confirmed airway haemangioma were included. Thirty- eight patients with airway haemangioma from 9 centres were included. Thirty-one patients had a cutaneous or mucosal haemangioma: 21 with a location considered at high risk for airway haemangioma (large segmental mandibular haemangioma), 4 with a very mild facial involvement (lower lip or S1 (frontotemporal segment according to Haggstrom and Frieden)) and 6 with either lesions of the neck or body, or association of both. We report here the largest cohort of airway haemangioma. A third of patients do not completely fit with the definition of the high-risk area of airway haemangioma. Segmental lower lip and neck involvement also seem to be very suggestive areas. Clinicians must be able to recognize these areas. [ABSTRACT FROM AUTHOR]

Moderate to severe ichthyosis is known to have a significant impact on quality of life. A French national survey was performed to describe in more detail how ichthyosis impacts the patients' lives. A questionnaire specifically dedicated to ichthyosis was distributed to patients followed in hospital expert centres or members of the French association of patients. A total of 241 questionnaires were completed and returned (response ratio: 29% for children and 71% for adults). A negative impact of ichthyosis was obvious in terms of domestic life (skin care, housework, clothing, etc.), educational/professional lives (rejections by other children, workplace discrimination, absenteeism, etc) and for leisures/sports activities. The patient's economical resources were also heavily impacted by ichthyosis with important out-of-pocket expenses. [ABSTRACT FROM AUTHOR]

The article discusses a study regarding the impact of weighted factors associated with impaired quality of life (QoL) in adult patients diagnosed with ichthyosis. Topics addressed include skin scaling that characterizes inherited ichthyosis, the impact of pruritus on QoL, and the vulnerability of women with severe scales and pain. Also mentioned are cutaneous pain evaluation, the general ineffectiveness of analgesics in treating cutaneous pain, and gender's influence on QoL.

The article offers information on the effect of topical rapamycin 1 percent, an efficient topical treatment of cutaneous angiofibroma, in patients with tuberous sclerosis, on trichoepitheliomas of 5 patients with multiple familial trichoepitheliomas (MFT) syndrome; and mentions all trichoepitheliomas were histologically confirmed, showing basaloid lobules with keratocysts and infundibular keratinization without epidermal continuity, and with cellular fibroblastic stroma.

The article describes the case of a child with lethal Keratitis-Ichthyosis-Deafness (KID) syndrome due to inherited GJB2 mutation from his mother who showed a segmental form of the disease. Topics discussed include the KID as a rare form of ichthyosis due to a mutation of the gene that encodes the gap junction protein connexin 26 (Cx26), characteristics of the patient with KID and poor prognosis of the disease.