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Autosomal Dominant Pattern (autosomal + dominant_pattern)
Selected AbstractsNeurofibromatosis type 1: should we screen for other genetic syndromes?EUROPEAN JOURNAL OF CLINICAL INVESTIGATION, Issue 9 2009A case report of co-existence with multiple endocrine neoplasia 2A Abstract Background, NF 1 is a genetic disorder with an autosomal dominant pattern of inheritence. It is associated with neoplastic disorders mainly derived from the neural seath. However, the co-existence of NF1 with the full spectrum of MEN 2A has rarely been reported. The aim of the study was to investigate the presence of secondary neoplasias in a patient with diagnosed NF1, and in particular the presence of hyperparathyroidism and the possible co-existence with another pheochromocytoma-related syndrome. Methods, We report a case of a 70 years old female patient who had NF1. The patient was referred to our center and was diagnosed with an isolated pheochromocytoma of the right adrenal gland for which she underwent right adrenalectomy. We further investigated for the presence of another pheochromocytoma-related syndrome and in particular for the presence of hyperparathyroidism and medullary thyroid cancer. Molecular screening for germline mutations of the genes NF1, RET and VHL has also been performed. Results, The patient was further diagnosed with hyperparathyroidism and medullary thyroid cancer, having the full spectrum of the clinical picture of the MEN2A syndrome. The genetic testing revealed the germline mutation for NF1 but not for the RET proto-oncogene which is generally found in MEN2A cases. Conclusion, To our knowledge this is a rare case of co-existence of two pheochromocytoma-related genetic syndromes, and generates the question of whether all patients with these syndromes should undergo a thorough clinical and laboratory investigation for the possibility of another co-existing pheochromocytoma-related genetic syndrome. [source] Characteristics of skin aging in Korean men and womenINTERNATIONAL JOURNAL OF COSMETIC SCIENCE, Issue 1 2005J. H. Chung Introduction Korea is located between Japan and Mainland China. The people of these three countries have similar appearances and it is difficult to differentiate between them. Although the population of Asia is more than half of the total population of the Earth, the inherent characteristics of Asian skin have not been well investigated. Commercial markets for cosmetics and drugs for photoaged skin are rapidly expanding in many Asian countries. Therefore, many investigators in the field of dermatology and cosmetology have become interested in brown Asian skin. Clinical characteristics of skin aging and photoaging in Asians Skin aging can be divided into two basic processes: intrinsic aging and photoaging [1]. Intrinsic aging is characterized by smooth, dry, pale, and finely wrinkled skin, whereas photoaging, which indicates premature skin aging in chronically photodamaged skin, is characterized by severe wrinkling and irregular pigmentation. The pattern of wrinkling in Asians seems to differ from that in Caucasians. Asians have coarser, thicker and deep wrinkles, particularly in the forehead, perioral and Crow's foot areas. In contrast, Caucasians usually have relatively fine cheek and Crow's foot wrinkles. The reasons for these differences are not known and need further investigation. There are racial, ethnic and genetic differences, and differences of skin structure and function, between the brown skin of Asians and the white skin of Caucasians. As Asian skin is more pigmented, acute and chronic cutaneous responses to UV irradiation differ from those in white skin. Many people believe, based on clinical impressions, that the main process of photoaging in Asians involves pigmentary changes, rather than wrinkling. However, no study has been performed to confirm this belief. Risk factors for skin wrinkles and their relative risks in Korean skin [2] Various factors such as age, sun-exposure, and smoking are known to be important risk factors for wrinkles. However, the relative risks of each factor on wrinkles in the brown skin of Asians have not been investigated, and they could differ from those in Caucasians. An evaluation system for skin wrinkling is necessary for Asian skin [3]. Thus, we developed an eight-point photographic scale for assessing wrinkles in both Korean genders [2]. This scale can probably be applied to the populations of other Asian countries, at least to the Japanese and Chinese. The pattern of wrinkles in both genders appears to be similar. Age Age is an important risk factor for wrinkling in Asians, as in Caucasians. Korean subjects in their 60s showed a 12-fold increased risk of wrinkling, while subjects in their 70s have a 56-fold increased risk compared with young age group. UV light It is well known that the UV component in sunlight can cause and accelerate photoaging. The pigmented skin of Asian may better protect skin from acute and chronic UV damage. However, we found a strong association between sun-exposure and the development of wrinkling in Koreans. It was found that sun exposure of more than 5 h per day was associated with a 4.8-fold increased risk in wrinkling versus less than 2 h of sun-exposure in Koreans. Estrogen deficiency Korean females have more wrinkles than men, after controlling for age, sun exposure, and smoking, it was found that they have a 3.6-fold increased risk of developing wrinkles than their male counterparts [2]. It has also been reported, that the relative risk for wrinkling in women is higher than in men as for in white Caucasians [4]. The reason why women show more wrinkles remains to be determined. It is possible that a reduction in skin collagen because of estrogen deficiency in postmenopausal woman may aggravate wrinkling severity. Korean women with more than 10 years since menopause showed a 3.9-fold higher risk of wrinkling than the women 5 years of beyond menopause [5]. We demonstrated that women with a history of HRT have a significantly lower risk, more specifically, one fifth of the risk of facial wrinkling relative to those who had no history of HRT. Interestingly, we found that wrinkle severity significantly increased with an increasing number of full term pregnancies. The relative risk for severe wrinkling is increased by approximately 1.8-fold per full term pregnancy. Smoking It is known that smoking causes skin wrinkling in Caucasians, and that it plays no role in Blacks [6, 7]. Koreans with have a smoking history of more than 30 pack years showed a more than 2.8-fold increased risk of wrinkles [2]. The relative risks of wrinkles associated with a 30,50 pack-years history of smoking were 2.8- and 5.5-fold, respectively. Dyspigmentation in Asian skin To follow pigmentary changes, six photographic standards for both genders were developed for Korean skin, to produce a 6-point scale [2, 8]. Hyperpigmented spots, mostly lentigines, were prominent among women, while seborrheic keratosis tended to be more prominent in men. Seborrheic keratosis in Korean men Seborrheic keratoses (SKs) are benign cutaneous tumors. They have diverse clinical and histopathological appearances and are very common in the elderly (over 50 years old). The etiology of SKs is not well understood, although patients with a great number of lesionsshow a familial trait with an autosomal dominant pattern, and human papilloma virus has been suggested as possible cause because of verrucous appearance of the lesions. Exposure to sunlight has been suggested to be a risk factor for SKs. However, there is still some debate in terms of the role of sunlight. Recently, we have investigated the clinical characteristics of SKs and relationship between SKs and sunlight exposure in Korean males [9]. The prevalence of SKs in Koreans increases with age; it rose from 78.9% at 40 years, to 93.9% at 50 years and 98.7% in those over 60 years. Exposed areas, i.e. the face, neck and dorsum of the hands, demonstrate a significant increase in the prevalence of SKs by decade, whereas partly exposed areas, although SKs tended to increase in prevalence with age, this trend was not significant. When the estimated body surface area (BSA) is taken into account, the number of SKs on both the face and dorsum of the hands (0.51 ± 0.08 per 1% BSA) was over-represented compared with the trunk. SKs were also concentrated on the neck (0.38 ± 0.07 per 1% BSA) and in the V-area (0.47 ± 0.09 per 1% BSA). Outer forearms also showed 3-fold more SKs per unit area than neighboring arms and inner forearms, which are classified as partly exposed area (0.09 ± 0.02, 0.03 ± 0.01, respectively). The total area covered by SKs on exposed area also became significantly larger with aging than on intermittently exposed areas. These results indicate that exposure to sunlight might be related to SK growth. Our results indicated that excessive sun exposure is an independent risk factor of SKs. After controlling for age, smoking, and skin type, subjects with a sun exposure history of more than 6 hours per day showed a 2.28-fold increased risk of having severe SKs (n , 6) compared with those exposed for less that 3 h per day. These findings indicated that sun-exposure may play an important role in SK development. In summary, SKs are very common in Korean males and represent one of the major pigmentary problems. SKs concentrate on exposed skin, especially on the face and dorsum of the hands. Both age and lifetime cumulative sunlight exposure are important contributing factors and may work in a synergistic manner. Conclusion Many people tend to believe that wrinkles are not a prominent feature of Asian photoaged skin, and that dyspigmentation is a major manifestation in Asian skin. Contrary to this impression, wrinkling is also a major problem in the photoaged skin of Asians, and Korean people showing severe pigmentary changes usually tend to have severe wrinkles. In conclusion, the wrinkling patterns and pigmentary changes of photoaged skin in East Asians differ from those of Caucasians, and the relative risks of aggravating factors may be different from those of Caucasian skin. References 1.,Gilchrest, B.A. Skin aging and photoaging: an overview. J. Am. Acad. Dermatol. 21, 610,613 (1989). 2.,Chung, J.H. et al. Cutaneous photodamage in Koreans: influence of sex, sun exposure, smoking, and skin color. Arch. Dermatol. 137, 1043,1051 (2001). 3.,Griffiths, C.E. et al. A photonumeric scale for the assessment of cutaneous photodamage. Arch. Dermatol. 128, 347,351 (1992). 4.,Ernster, V.L. et al. Facial wrinkling in men and women, by smoking status. Am. J. Public Health. 85, 78,82 (1995). 5.,Youn, C.S. et al. Effect of pregnancy and menopause on facial wrinkling in women. Acta Derm. Venereol. 83, 419,424 (2003). 6.,Kadunce, D.P. et al. Cigarette smoking: risk factor for premature facial wrinkling. Ann. Intern. Med. 114, 840,844 (1991). 7.,Allen, H.B., Johnson, B.L. and Diamond, S.M. Smoker's wrinkles? JAMA. 225, 1067,1069 (1973). 8.,Chung, J.H. Photoaging in Asians. Photodermatol. Photoimmunol. Photomed. 19, 109,121 (2003). 9.,Kwon, O.S. et al. Seborrheic keratosis in the Korean males: causative role of sunlight. Photodermatol. Photoimmunol. Photomed. 19, 73,80 (2003). [source] Type V Osteogenesis Imperfecta: A New Form of Brittle Bone Disease,JOURNAL OF BONE AND MINERAL RESEARCH, Issue 9 2000Francis H. Glorieux Abstract Osteogenesis imperfecta (OI) is commonly subdivided into four clinical types. Among these, OI type IV clearly represents a heterogeneous group of disorders. Here we describe 7 OI patients (3 girls), who would typically be classified as having OI type IV but who can be distinguished from other type IV patients. We propose to call this disease entity OI type V. These children had a history of moderate to severe increased fragility of long bones and vertebral bodies. Four patients had experienced at least one episode of hyperplastic callus formation. The family history was positive for OI in 3 patients, with an autosomal dominant pattern of inheritance. All type V patients had limitations in the range of pronation/supination in one or both forearms, associated with a radiologically apparent calcification of the interosseous membrane. Three patients had anterior dislocation of the radial head. A radiodense metaphyseal band immediately adjacent to the growth plate was a constant feature in growing patients. Lumbar spine bone mineral density was low and similar to age-matched patients with OI type IV. None of the type V patients presented blue sclerae or dentinogenesis imperfecta, but ligamentous laxity was similar to that in patients with OI type IV. Levels of biochemical markers of bone metabolism generally were within the reference range, but serum alkaline phosphatase and urinary collagen type I N-telopeptide excretion increased markedly during periods of active hyperplastic callus formation. Qualitative histology of iliac biopsy specimens showed that lamellae were arranged in an irregular fashion or had a meshlike appearance. Quantitative histomorphometry revealed decreased amounts of cortical and cancellous bone, like in OI type IV. However, in contrast to OI type IV, parameters that reflect remodeling activation on cancellous bone were mostly normal in OI type V, while parameters reflecting bone formation processes in individual remodeling sites were clearly decreased. Mutation screening of the coding regions and exon/intron boundaries of both collagen type I genes did not reveal any mutations affecting glycine codons or splice sites. In conclusion, OI type V is a new form of autosomal dominant OI, which does not appear to be associated with collagen type I mutations. The genetic defect underlying this disease remains to be elucidated. [source] The Preauricular Sinus: A Review of its Clinical Presentation, Treatment, and AssociationsPEDIATRIC DERMATOLOGY, Issue 3 2004Noah S. Scheinfeld M.D. Usually asymptomatic, they manifest as small dells adjacent to the external ear near the anterior margin of the ascending limb of the helix, most frequently on the right side. Preauricular sinuses can be either inherited or sporadic. When inherited, they show an incomplete autosomal dominant pattern with reduced penetrance and variable expression. They may be bilateral, increasing the likelihood of being inherited, in 25,50% of cases. Preauricular sinuses are features of other conditions or syndromes in 3,10% of cases, primarily in association with deafness and branchio-oto-renal (BOR) syndrome. When other congenital anomalies coexist with these sinuses, auditory testing and renal ultrasound should be considered. Sinuses may become infected, most commonly with gram-positive bacteria, in which case their exudates should be cultured and appropriate antibiotics administered. Recurrent infection is a clear indication for complete excision and provides the only definitive cure. Recurrence rates after surgery range from 9% to 42%. Meticulous excision by an experienced head and neck surgeon minimizes the risk of recurrence. [source] | ||||||||||