Overgrowth syndromes.

PURPOSE OF REVIEW: Human growth ensues from a complex interplay of physiological factors, in the wider setting of varying genetic traits and environmental influences. Intensive research in these divergent areas, and particularly in the field of genetics, continues to clarify the molecular basis of disorders which result in overgrowth, and it is therefore timely to provide a review of these findings. RECENT FINDINGS: This article provides an overview of the factors which regulate growth, followed by a discussion of the more commonly encountered overgrowth syndromes and their genetic basis as it is understood at the current time. There is also an added focus on recently discovered genetic associations in some conditions, such as Weaver, Perlman and Proteus syndromes. SUMMARY: New discoveries continue to be made regarding the genetic basis for many overgrowth syndromes and the development of a much needed molecular classification system for overgrowth may become possible as the interlinking functions of these genes on growth are unravelled. As there exists a wide spectrum of syndromes, disorders resulting in overgrowth can represent a diagnostic and therapeutic challenge, from those causing prenatal overgrowth with a poor prognosis to less severe genetic aberrations which are identified in later childhood or adult life.

Neurofibromatosis type 1 and the "elephant man's" disease: the confusion persists: an ethnographic study.

BACKGROUND: In 1986, two Canadian geneticists had demonstrated that Joseph Merrick, better known as the Elephant Man, suffered from the Proteus syndrome and not from neurofibromatosis type 1 (NF1), as was alleged by dermatologist Parkes in 1909. Despite this and although the two diseases differ at several levels: prevalence, diagnostic criteria, clinical manifestations and transmission, the confusion between NF1 and the "elephant man's" disease continues in medical and social representations by current linguistic usage, and in some media reports. With this article, we want to 1) document the persistence and extent of this fallacy, 2) identify certain critical factors that contribute to its persistence, and 3) evaluate its impact on the health and well being of patients with NF1 and their family members. METHODOLOGY: Participant observation in the course of an ethnographic study on intergenerational dialogue between individuals with neurofibromatosis and their parents - Analysis of the scientific literature and of pinpoint articles in the print and online news media. FINDINGS: Our findings show that because physicians have little knowledge about NF1, several print and online news media and a lot of physicians continue to make the confusion between NF1 and the disease the "elephant man". This misconception contributes to misinformation about the disease, feeding prejudices against affected patients, exacerbating the negative impacts of the disease on their quality of life, their cognitive development, their reproductive choices, as well as depriving them of proper care and appropriate genetic counseling. CONCLUSION: If family physicians and pediatricians were properly informed about the disease, they could refer their patients with NF1 to NF clinics and to specialists. Thus, patients and their family members would benefit from better-tailored clinical management of their cases, perhaps even optimal management. [corrected]

A rare case of Proteus syndrome.

INTRODUCTION: We report a rare case of Proteus syndrome which presented with dysphagia due to unilateral tonsillar hypertrophy. CASE REPORT: Our case had involvement of multiple organs in addition to bony deformities, namely, enlarged right parotid gland and right testis, verrucous naevus, varicose veins and abdominal lipoma. The features unique to this case were a larger right optic disc and expansion of the inner table of the skull. DISCUSSION: A literature review revealed less than 100 bona fide, published cases which fit the revised diagnostic criteria proposed by Turner. SUMMARY: The ENT manifestations of Proteus syndrome are high arched palate, gingival hypertrophy, malocclusion and overcrowding of teeth, hyperostosis of the external auditory meatus, and low nasal bridge. Our patient had a unilateral enlargement of the tonsil causing dysphagia, which was relieved by tonsillectomy.

Parenting children with Proteus syndrome: experiences with, and adaptation to, courtesy stigma.

Courtesy stigma refers to the stigmatization an unaffected person experiences due to his or her relationship with a person who bears a stigma. Parents of children with genetic conditions are particularly vulnerable to courtesy stigma, but little research has been done to explore this phenomenon. The purpose of this study was to investigate the courtesy stigma experiences of parents of children with Proteus syndrome (PS) and related overgrowth conditions. Thematic analysis of transcripts from 31 parents identified three distinct themes: stigma experiences, social-emotional reactions to stigmatizing encounters, and coping responses. Four types of stigmatizing experiences were identified: intrusive inquires, staring and pointing, devaluing remarks, and social withdrawal. Additionally, we uncovered eight strategies parents used to cope with courtesy stigma: attributing cause, assigning meaning to social exchanges, concealing, withdrawing socially, taking the offensive, employing indifference, instructing and learning from family, and educating others. Parents' choices of strategy type were found to be context dependent and evolved over time. This is the first study to document the adaptive evolution of coping strategies to offset courtesy stigma by parents of children with genetic conditions. These results provide groundwork for genetic counseling interventions aimed at addressing issues of courtesy stigma and further investigation of the phenomenon itself.