Cutaneous Lesions of Mastocytosis: Mast Cell Count, Morphology, and Immunomolecular Phenotype.

ABSTRACT: Mastocytosis is a condition characterized by accumulation of clonal mast cells (MCs) that often involves the skin. Pathologists are often challenged with skin biopsies with a question of cutaneous lesions of mastocytosis (CLM) including cutaneous mastocytosis, mastocytosis in the skin, or systemic mastocytosis. The histopathological criteria for CLM remain poorly defined due to heterogeneity of the published literature and the lack of comparative prospective studies. MC count is greatly influenced by detection and counting techniques, criteria for viable MCs used, anatomical location biopsied, and the dermal level that is analyzed. Although MC numbers in CLM can be significantly higher compared with healthy controls and a patient with other inflammatory skin diseases, in some instances, considerable overlap exists. Based on the largest studies published, it is suggested that a number of MCs between 75 and 250 MCs/mm 2 are a range in which CLM should be considered and, above 250 MC/mm 2 , a diagnosis of CLM can be made. A recent study showed a high specificity of >95% of a MC count >139 MC/mm 2 compared with patients with other inflammatory skin diseases. Noteworthy, the total number and percentage of MCs is significantly higher in children compared with adults, particularly in polymorphic maculopapular cutaneous mastocytosis. In difficult cases, ancillary techniques such as D816V mutation analysis on formalin-fixed paraffin-embedded tissue have a high sensitivity and specificity. There is no enough evidence that immunohistochemistry of CD25, CD2, or CD30 has any additional value in the diagnosis, subtyping, or clinical course of mastocytosis.

Netherton syndrome; neuropsychological and psychosocial functioning of child and adult patients and their parents.

BACKGROUND: Netherton syndrome is a rare severe skin disease. Clinical experience showed considerable psychosocial burdens among Netherton syndrome patients/families. Their (neuro)psychological functioning has never been investigated. OBJECTIVE: To investigate neuropsychological/psychosocial functioning of Netherton syndrome patients and parents. METHODS: A total of 12 Netherton syndrome patients and/or parents completed neuropsychological tests, semi-structured-interviews, and psychological-questionnaires. RESULTS: Intelligence results showed disharmonic profiles, with below-average scores on processing speed. Neuropsychological problems and unfavorable outcomes on health-related quality of life, illness-appearance-related problems, and negative social consequences among patients/parents were found. Psychopathological (emotional) problems were reported; stigmatization, bullying was common among Netherton syndrome patients. CONCLUSION: Compared with normative data, Netherton syndrome patients showed neuropsychological and psychosocial problems. Standard follow-up is necessary to identify problems at early stage.

Treatment of Infantile Hemangioma in Regional Hospitals With eHealth Support: Evaluation of Feasibility and Acceptance by Parents and Doctors.

BACKGROUND: Since beta blockers became the preferred treatment for infantile hemangiomas (IH), the number of patients eligible for treatment is increasing. Currently treatment of IH with beta blockers is mainly reserved for expert centers, where wait times are lengthening. This demonstrated the need for development of a more efficient and accessible way of providing care for children needing treatment for IH. An eHealth intervention, Hemangioma Treatment Plan (HTP), was developed to treat IH in regional hospitals with online support from an academic doctor. OBJECTIVE: Our goal was to evaluate the feasibility of the eHealth intervention by determining its use, acceptance, and usability. By evaluating the feasibility, usage can be predicted and points for improvement can be defined, thereby facilitating implementation of the intervention. METHODS: Parents of children with an IH, presenting between October 2012 and November 2013 at the tertiary expert Center for Congenital Vascular Anomalies Utrecht, requiring treatment with a beta blocker, were asked to participate in the digital HTP. Both parents and regional doctors were sent a study questionnaire. Acceptance and usability of the HTP were evaluated by using the modified Technology Acceptance Model. RESULTS: A total of 31 parents and 22 regional doctors participated in the eHealth intervention and received the questionnaire, and 25 parents and 15 doctors responded (response rates respectively 81% and 68%). A majority of the parents (96%, 24/25) and the regional doctors (87%, 13/15) considered the eHealth intervention useful in the care for IH. Most parents (76%, 19/25) and over half of the regional doctors (53%, 8/15) found the HTP easy to use. Technical problems using the HTP were reported by 28% (7/25) of the parents and 73% (11/15) of the doctors. The majority of parents (92%, 23/25) felt positive about usage of the HTP during treatment of their child. All regional doctors (100%, 15/15) felt positive about transition of treatment from the tertiary expert center to them, and 93% (14/15) felt positive about using the HTP. CONCLUSIONS: Our eHealth intervention shows good feasibility, especially among parents. Improvement with respect to technical problems, training of regional doctors, and achieving organizational support might be needed for successful implementation in the future.