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Genetic diseases with hyper- and hypotrichosis are very heterogeneous, both clinically and genetically. This is especially true for ectodermal dysplasias but also for hereditary syndromes in which, beyond abnormal hair growth, other structures and organs are affected. In this review, we discuss distinct diseases with excessive and reduced hair growth, focusing on the clinical hallmarks and underlying genetic defects.

Skin tumors can manifest solitarily and sporadically but can also be multiple and familial. Beside the skin, hereditary cutaneous tumor syndromes also affect extracutaneous organs and are clinically and genetically heterogeneous. Taking the medical history, a clinical examination and dermatopathological characterization of the respective neoplasia will help the dermatologist to reach a diagnosis at an early stage. Subsequently, this diagnosis can be unambiguously confirmed by molecular genetic analysis. Here, we provide an overview and update on selected hereditary cutaneous tumor syndromes.

Typical lesions of the carpal ligaments are mostly found after a fall on the wrist in hyperextension or as complex injuries after severe trauma, e. g. after a fall from a significant height, motorcycle accident or as accompanying lesions in multiple trauma. The typical mechanisms, patterns and diagnostic algorithms are well known for the common ligamentous injuries (e.g. scapholunate, lunotriquetral and perilunate); therefore, consistent diagnostic procedures and adequate therapy are increasingly performed after such lesions, e. g. by early ligament repair or by ligament reconstruction through augmentation. Within appropriate operative treatment, accompanying fractures are also treated and instabilities are addressed by transfixation of joints by Kirschner wires. If followed by immobilization with a cast or stable brace, healing can be achieved in most cases; however, more problems occur if ligamentous lesions or instabilities are not clearly due to a trauma mechanism and more the result of laxity or hypermobile situations due to a congenital predisposition. In such cases, wrist pain is often described and misdiagnosed as the result of overload or tenovaginitis.

The hand is the second most frequently injured region of the body in children. The aim of this study was to evaluate age-related injury patterns, trauma mechanisms, as well as the need for surgery in pediatric patients with injuries to the hand.This was a retrospective study analyzing the data between January 2008 and December 2014 at Frankfurt University Hospital. All patients were younger than 18 years old. All patients suffering trauma to the hand or the fingers were included. The injury mechanism, injury pattern as well as need for surgery were analyzed according to different age groups (0-3 years, 4-7 years, 8-12 years and 13-17 years). Major injuries were defined as fractures, dislocations, amputations and injuries of the tendons or nerves. Minor injuries included contusions and superficial wounds.Overall, 2823 emergency pediatric patients with an injury to the hand or fingers were included (61.5% male, median age 10.3 years). Of the injuries 60.4% were located on the fingers and 39.6% on the hand. Major injuries were found in 703 patients (24.9%) and minor injuries in 2120 patients (75.1%). Of those patients with a major injury, 74.8% suffered a fracture, 9.4% an injury of nerves and tendons and 7.0% an amputation. The most common trauma mechanism for major injuries was sports (24.2%), followed by crushing (17.9%) and falls (14.7%). Overall, 436 patients (15.5%) were surgically treated of which 9.4% were operated on in the operation room and 6.1% in the emergency room.Almost 75% of all children who presented to the emergency department following trauma to the fingers or the hand revealed minor injuries; however, 25% suffered a relevant, major injury. Overall, 15.5% had to be surgically treated. The most frequently found major injuries were fractures of the hand and the fingers.

Although bronchoalveolar lavage (BAL) is often used in the diagnosis of interstitial lung diseases (ILDs), its importance in investigating, in particular, idiopathic pulmonary fibrosis (IPF) is controversial. The cell distributions in the BAL are taken into account in the clinical routine, non-cellular characteristics of the BAL play no role.Using mathematical modeling of data, the present work investigated the extent to which BAL features enable drawing conclusions about the underlying ILK or help exclude IPF. Included in the calculation are cellular findings of the BAL, in addition the protein and albumin content of the BAL, the nicotine history (pack years), and spirometry (FEV1, IVC).Using linear discriminant analysis and creating classification trees, the relevance of the characteristics of 806 patients with ILK was examined (183 IPF, 191 cryptogenic organizing pneumonia, 147 lung involvement in autoimmune disease, 97 respiratory bronchiolitis interstitial lung disease, 118 extrinsic allergic alveolitis, 41 lymphocytic interstitial pneumonia (LIP), 23 non-specific interstitial pneumonia (NSIP), 88 controls).There was a close positive relationship between protein levels and lymphocytes in the group as a whole. No such correlations were seen in IPF and NSIP. Albumin was closely correlated with the protein content in all groups.The lymphocytes are best suited to distinguish between different ILDs. Yet, a reliable calculation of the ILD is not possible on the basis of the investigated factors, the classification error ranged from 23.5 % (IPF) to 100 % (LIP, NSIP).Constellations that likely ( 99 %) speak against an IPF are lymphocytosis 34 % or protein content 347 mg/l. The same applies to the constellation: lymphocytes 25 % together with protein 250 mg/l.In ILD, BAL findings can narrow the diagnosis, but they are seldom diagnostic. BAL can make an important contribution to excluding of IPF.

Porphyrias comprise a heterogeneous group of predominantly genetically determined metabolic diseases which are due to a dysfunction in heme biosynthesis. Variegate porphyria and hereditary coproporphyria are referred to as neurocutaneous porphyrias because affected patients can develop both cutaneous symptoms on light-exposed body sites and potentially life-threatening acute neurovisceral symptoms, thereby mimicking several other diseases. In this overview, we provide an update on pathogenesis, clinical manifestation, diagnosis, and therapy of these two types of porphyria.

The porphyrias comprise a clinically, biochemically, and genetically heterogeneous group of predominantly hereditary metabolic disorders resulting from a dysfunction along the heme biosynthetic pathway. Whereas most variants can manifest with different cutaneous symptoms, some types only reveal life-threatening acute neurovisceral attacks. Therefore, interdisciplinary care of these patients is advisable. In this article, we provide an overview of characteristic clinical and laboratory findings in the various forms of porphyria and a diagnostic algorithm.

Erythropoietic protoporphyria, the second most common type of the cutaneous porphyrias, is due to an enzymatic deficiency of ferrochelatase, the last enzyme in heme biosynthesis. The enzyme defect leads to an accumulation of protoporphyrin IX in erythrocytes and an elevated excretion of this metabolite in the feces.Usually, disease onset is in early infancy, characterized by increased photosensitivity. During or shortly after sunlight exposure, affected individuals suffer from burning, stinging, itching, and pain in sun-exposed skin areas. These symptoms lead to a considerably reduced quality of life and strict avoidance of sunlight exposure. Subacute symptoms include visible changes like edema and erythema. In the further course of the disease, chronic signs such as lichenification and scarring may occur. A severe complication of hepatic protoporphyrin IX accumulation is the development of a potentially life-threatening fulminant liver failure. Therefore, hepatic laboratory tests and ultrasound of the liver should be performed regularly.Traditionally, therapy merely consisted of consequent photoprotection and orally administered β-carotene. A novel treatment option is afamelanotide (Scenesse®), a synthetic analogue of the naturally occurring α-melanocyte stimulating hormone. Afamelanotide, administered as a subcutaneous implant, induces eumelanin production, independent of preceding UV light exposure. This may enable patients with erythropoietic protoporphyria to stay in sunlight significantly longer than previously possible without complaints, thus, substantially improving quality of life.

Congenital erythropoetic porphria is a very rare type of autosomal recessive nonacute porphyria. Homozygous or compound heterozygous mutations in the uroporphyrinogen III consynthase gene cause a marked enzymatic deficiency of uroporphyrinogen III consynthase, the fourth enzyme along the heme biosynthetic pathway.Clinically, affected patients are characterized by a moderate to severe photosensitivity. Starting early in infancy, they develop blisters, erosions, and exulcerations in sun-exposed areas of the body, often resulting in scar formation and mutilation. Besides the cutaneous changes, hemolytic anemia, transfusion-dependent pancytopenia, hepatosplenomegaly and liver cirrhosis can occur. Due to increased susceptibility for infections and because of the hematological and hepatic complications, affected individuals have a decreased life expectancy, rarely exceeding 40 years of age.Currently, no causal treatment is available for the disorder. Therefore, the most important therapeutic modality is strict avoidance of sunlight, preferably by inversion of the day-night rhythm, or at least consequent photoprotection with adequate clothing. In severe cases, bone marrow or stem cell transplantation should be considered.

To date, the Aptis distal radioulnar joint (DRUJ) prosthesis by Scheker is the only total, bipolar prosthesis available. In the literature, only few data exist concerning the prosthesis and its surgical technique. Aim of the present study was the evaluation of the medium-term clinical and radiological outcome following implantation of the Aptis DRUJ prosthesis.5 patients (4 women and 1 man) with mean age of 40.2 (30-65) years underwent secondary implantation of the Aptisprosthesis between February 2006 and May 2013. The average date of the follow-up was after 36 (24-48) months. Besides the complications, the wrist range of motion (ROM) and the strength in grip were measured. The quality of pain was determined using a visual analogue pain scale from 0-10. In follow-up X-ray controls, bone resorption and bony abnormalities were evaluated. The DASH score as well as the postoperative subjective satisfaction of the patients were recorded.No patient required removal of the prosthesis. Only 1 patient underwent secondary surgery in which debridement of the screw tip over the radius was required. The postoperative range of motion in pronation and supination was measured with 78 (70-90)° and 82 (70-90)°. The average grip strength amounted to 29 (24-32) kg. This represented 85 (76-100)% of the value of the contralateral side. Postoperative pain symptoms on the visual analogue pain scale were measured with 0 points at rest and with 1.2 (0-2) points under strain. Radiological evaluation showed bone resorption at the radial peg in 2 patients, but without evidence of implant loosening. The DASH score was recorded with 37 (13-75) points. All patients were satisfied or very satisfied after the surgical treatment.The Aptis prosthesis is a safe and efficient treatment option for previously failed surgery of the DRUJ.

An 18-year-old female with palmoplantar keratoderma, hyperhidrosis, facial verruciform papillomatosis, coarse face, growth retardation and developmental delay presented to our outpatient clinic. A diagnosis of Costello syndrome was made, and genetic counseling and a molecular genetic analysis were initiated. By this means, a heterozygous missense mutation in exon 2 of the HRAS gene, designated c.34GA (p.Gly12Ser), was detected, confirming the clinical diagnosis. Costello syndrome belongs to the group of clinically and genetically heterogeneous RASopathies with cutaneous symptoms. Collectively, the RASopathies are caused by mutations in different genes, which lead to dysregulation of the RAS/MAPK (mitogen-activated protein kinase) signaling pathway. This signaling route regulates the delicate balance between cell proliferation and differentiation, and plays an important role in embryogenesis and carcinogenesis. In the RASopathies with cutaneous symptoms, overlapping clinical findings may hamper making an accurate diagnosis. Therefore, a molecular genetic analysis may be useful, as in the patient described here.

The influence of the demographic change and the impact on the entire health care system have been discussed by different theories (Expansion of Morbidity, Compression of Morbidity, Bimodality of Morbidity). This paper aims to project for the outpatient health care of statutory health insurance, the influence of the demographic development, the size and structure of statutory health insured and the change in morbidity based utilization on the outpatient volume of services for 2020.Considered impact factors and their trend specifications are separately modelled and modular combined as components of scenarios.The compound annual growth rate of the outpatient volume of services varies between almost 0 and 2.2%.For 2020 a moderate increase of outpatient volume of services for statutory health insurance is expected, if costs of dying are taken into account, even though cross-sectional data for 2011 show a decrease in expenditure profiles with increased age. Projections with the scenario technique can support strategic decision making by estimating likely trends and effects of measures given the causal process in health care systems.

The purpose of this work was to retrospectively evaluate clinical and radiological results after surgical treatment for scapholunate ligament ruptures.Measurements of range of motion, strength, and angles, as well as postoperative score assessments were performed in 32 patients.The average mobility in the operated wrist was 52° for flexion, extension 57°, radial 24°, ulnar deviation 31° and forearm rotation outward 88° and inward 89°. The recovery of force was 89% compared with the healthy hand. It showed an average skapholunar angle of 63°, a radioulnar angle of 22° and an average carpal height according to Nattrass of 1.49. Our patients rated the operation result with a median DASH score of 11 points (range 0-70.8 points). The median objective Mayo Wrist Score was 80 points (range 45-100 points).Surgical treatment of scapholunate ligament rupture, especially against the background of carpal collapse, is a very satisfactory method with very good results in the objective function and strength, and a high level of patient satisfaction.

Cutaneous malignancies can manifest as isolated and sporadic tumors as well as multiple and disseminated tumors. In the latter case they often point to a genetic disease, which either can be restricted to the skin exclusively or also involve extracutaneous organs in the context of a hereditary tumor syndrome. Such hereditary tumor syndromes are clinically and genetically very heterogeneous. Therefore, the prevailing specific skin tumors play an important diagnostic role in the case of complex symptom constellations. Elucidation of the genetic basis of rare monogenetically inherited disorders and syndromes can contribute to a better understanding of the pathogenesis of frequently occurring cutaneous malignancies because the mutated genes often encode proteins, which have a key position in metabolic signaling pathways that are of high significance for the development of targeted therapies. Here we provide an overview of genodermatoses, which are associated with basal cell carcinomas, sebaceous carcinomas, keratoacanthomas, squamous cell carcinomas and malignant melanomas.

A 55-year-old woman presented with blistering on the back of her hands and shiny, thickened skin in her décolletage. Laboratory examination revealed increased urinary total and high carboxylated porphyrins and homozygosity for mutation C282Y in the HFE gene. Histopathology showed thickened collagen fibers in the presternal region. Based on these findings we made the diagnosis of porphyria cutanea tarda with pseudoscleroderma and hemochromatosis. Pseudoscleroderma is a rare complication of PCT but can also constitute the first cutaneous symptom of the disease, leading the way to diagnosis. Usually, adequate treatment of PCT with normalization of porphyrin values also results in improvement of pseudoscleroderma.

Patients suffering from hair loss or undesirable excessive hair growth are a challenge for dermatologists because the pathogenesis of most hair diseases is not well understood and therapeutic options are limited. This particularly holds true for genetic hair disorders, in which all current treatment attempts are unsuccessful. Furthermore, these diseases also pose a diagnostic challenge due to a broad range of clinical and genetic heterogeneity. However, the enormous progress in molecular biology over the past 20 years, in particular the availability of different new techniques such as whole exome and genome sequencing, has enabled us to elucidate the genetic basis of most monogenic hair disorders, given the availability of suitable index patients and families as well as adequate technical equipment and sufficient financial resources. In this review we provide an update on clinical and genetic aspects of selected monogenic and polygenic hair diseases manifesting with hypertrichosis and hypotrichosis.

A 43-year-old man presented with white to skin-colored shiny papules on the face and neck. In addition, he had a positive family history and reported on multiple pneumothoraces. Histopathological examination revealed a papular mucinosis. Considering these findings, we made the diagnosis of Birt-Hogg-Dubé syndrome (BHDS) that was confirmed by molecular genetic analysis. This autosomal dominantly inherited tumor disorder is caused by germline mutations in the folliculin (FLCN) gene that encodes for the eponymous protein folliculin. Clinically, BHDS is predominantly characterized by the occurrence of fibrofolliculomas and trichodiscomas. A papular mucinosis, as encountered in our patient, has been described only once previously. Besides the cutaneous symptoms the disease can be associated with lung cysts and pneumothoraces as well as the development of benign and malignant kidney tumors. Following confirmation of BHDS on the DNA level, all patients with multiple cutaneous fibrofolliculomas should be treated in an interdisciplinary setting and undergo regular prophylactic screening examinations due to the association with renal cell carcinomas.

A 45-year old man presented with red-brown hyperkeratotic papules that were distributed in an unilateral segmental fashion on the right thorax. Histopathological examination revealed acanthosis and, in particular, acantholysis and dyskeratosis in the basal and suprabasal epidermal layers. Based on the clinical and histopathologic findings we diagnosed a type 1 segmental Darier disease. Darier disease is an autosomal dominant disorder that is caused by mutations in the ATP2A2 gene and is characterized by dysfunctional adhesion between neighboring keratinocytes. The type 1 segmental manifestation reflects a de novo postzygotic somatic mutation in the heterozygous state and as a rule can be found in all autosomal dominantly inherited genodermatoses.

While being treated with azathioprine and dexamethasone, a 21-year old man with myasthenia gravis suddenly developed rapidly progressing brown macules, predominantly on the trunk, palms and soles. We made a diagnosis of eruptive melanocytic nevi (EMN). This rare entity can appear after blistering skin diseases, in immunocompromised patients, and, in particular, during immunosuppressive therapy for autoimmune diseases. Since therapeutic regimens including azathioprine have been frequently reported in association with EMN, we recommended to our patient a treatment switch to mycophenolic acid to prevent the development of more nevi.

The occurrence of multiple cutaneous leiomyomas can be indicative of hereditary cutaneous leiomyomatosis. This autosomal dominant disorder is due to germline mutations in the fumarate hydratase (FH) gene. Associations with uterine myomas and renal cell carcinomas have been described and are referred to as Multiple Cutaneous and Uterine Leiomyomas (MCUL) or Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC), respectively. A 34-year-old man presented with multiple red-brown papules and nodules. After histopathologic confirmation of piloleiomyomas, we made the diagnosis of hereditary cutaneous leiomyomatosis. Taking into consideration the aforementioned complications, close interdisciplinary management of these patients and regular screening examinations within affected families are mandatory.

Fractures and luxations with persistent instability of the elbow are severe injuries often followed by arthrofibrosis. The need for prolonged immobilization results in shortage of the ligaments and shrinking of the capsule. Treatment with dynamic hinged external fixation offers an option of protected early mobilization providing better results and avoiding stiffness and instability. In a retrospective study 22 patients with complex injuries of the elbow were evaluated with respect to the range of motion and subjective parameters (DASH score, DASH disabilities of the arm, shoulder and hand).

Hereditary metabolic diseases are very diverse with variable pathogenetic mechanisms and clinical findings. They can manifest in different organs and, in this respect, dermatologists may play a crucial role in making the right diagnosis if they know to interpret the signs on the skin correctly. Although these are usually rare diseases, the elucidation of the underlying genetic defects has delivered an invaluable contribution to the better pathogenetic understanding of several common diseases over the last years. This is mainly attributable to the fact that the proteins encoded by these genes are often key players within important metabolic signaling pathways of the human organism. We report on new developments in the field of selected porphyria types, hereditary angioedema, pseudoxanthoma elasticum, and hereditary cutaneous leiomyomatosis, all of which constitute a challenge for both dermatologists and other specialists.

The acquisition of data and public discussion of complications after therapeutic procedures and surgeries is a sensitive subject, which is mostly avoided even in department meetings. However, it is evident that the broad discussion and the expression of different opinions and aspects provide useful information for continuous improvements. Therefore, we established a system for the transparent acquisition of complications in our department.Since January 2005, we systematically register operative and non-operative complications at our department, evaluate them and therefore gain a great benefit. All the complications are presented, discussed and evaluated within the weekly morbidity and mortality conferences.In 2005 and 2006, among a total number of 2730 and, respectively, 3124 operations, 102 (3.7 %) and 71 (2.3 %) complications have been registered and analysed according to different criteria. We have distinguished between complications which required surgery and complications which only required conservative treatment. There was a higher number of complications which needed surgery. In this group, the most common complications have been found in vertebral spine surgery. The groups of complications with conservative treatment were mostly related to nerve lesions and deep venous thrombosis. With the aid of the internal department evaluation of the registered data, especially the number of complications in vertebral spine surgery could be clearly reduced in 2006.The described method has created a transparency of occurring complications because each colleague is informed as well as involved in the solution process. Furthermore, it is planned to evaluate the impact of risk factors on the various performed surgeries.

Following treatment of distal radius fractures poor functional results can still be found despite satisfactory radiological findings. This may be due to concomitant carpal lesions occurring together with these fractures. The aim of this prospective study was to analyze the clinical outcome depending on the type of fracture and concomitant carpal lesions.A total of 66 patients with distal radius fractures treated over a 1-year period could be assessed. The functional results were compared with the uninjured contralateral side. The follow-up examination included patient history, physical and radiographic examination as well as the DASH (Disability of the arm, shoulder and hand) questionnaire and the modified Mayo wrist score.The average follow-up time was 12.7 months and the mean age of the examined patients was 53 years. The fracture classification according to AO (AO Working party for osteosynthesis questions) showed 32% type A, 10% type B and 58% type C fractures. In 55% a concomitant carpal lesion was found and 44% of the patients required surgical treatment. All fractures united without complications. In all cases X-rays showed no loss of reduction postoperatively. Overall grip strength and wrist motion was reduced to 81% compared to the uninjured side. Patients regained good function represented in a mean DASH score of 24.8 points and a Mayo score of 70.6 points. The number of complete intraarticular fractures (type C) was significantly higher in patients who needed surgical treatment for carpal lesions compared to the groups where concomitant carpal lesions did not require invasive treatment or those where no carpal lesions were found. However, due to the operative treatment a comparable functional result could be obtained in all groups independent of the injury severity.The results demonstrate, if a correct restoration and surgical stabilization technique is used, clinical outcome following fractures of the distal radius also depends on an optimized management of concomitant carpal lesions.

The porphyrias are a heterogeneous group of predominantly hereditary metabolic diseases resulting from a dysfunction of heme biosynthesis. Most of the porphyrias can manifest with a broad range of cutaneous symptoms on the sun-exposed areas of the body, whereas other variants reveal life-threatening acute neurological attacks. Further, mixed types of porphyrias exist. Besides the skin, other organs can be affected, such as the liver and the central nervous system. Therefore, interdisciplinary supervision of these patients is mandatory. In this review we will first present the clinical picture and diagnosis of the porphyrias, including the specific biochemical laboratory tests and a diagnostic algorithm. Thereafter, the current therapeutic concepts will be briefly addressed. Finally, we introduce the European Porphyria Initiative (EPI), an association of various European porphyria centers that is aiming at gathering the broad experience of internationally renowned porphyria experts for the development of European consensus guidelines for diagnosis and treatment of these metabolic disorders.

Molluscum contagiosum is a viral disease frequently observed in children and adolescents with atopic dermatitis, in whom it poses a special therapeutic challenge. A 3-year-old girl presented with atopic eczema and disseminated molluscum contagiosum on her buttocks and upper legs. Topical application of 0.05% tretinoin resulted in a steady regression of the lesions. Other therapeutic options include topical anti-viral agents, cryosurgery, laser treatment, and curettage. Further, the therapeutic outcome is highly dependent on an adequate therapy of the concomitant atopic eczema.

A 9-year-old female developed facial papules and pustules since four years. Clinically, perioral dermatitis was suspected. Different topical therapy regimens and systemic anibiotics had been unsuccessful and a skin biopsy showed granulomatous (lupoid) rosacea. Only systemic antibiotic treatment with minocyclin led to healing of the skin lesions. While granulomatous rosacea-like dermatitis is more frequently diagnosed in adults, it is only rarely encountered in children where, in most of the cases, it represents a therapeutic challenge.

A 5 1/2-year-old boy revealed symmetric erythematous plaques on both arms and legs as well as in the face. Additionally, contractions of several digital joints were noted. We diagnosed a progressive symmetric erythrokeratoderma and initiated a topical therapy with tretinoin. Here we discuss the etiology, differential diagnoses, and therapeutic options of this rare disorder of keratinization.

Shortly after birth, a five-week-old female infant developed small blisters and erythema that followed the lines of Blaschko on the upper and lower extremities as well as the abdomen. Histological examination confirmed the clinical presumptive diagnosis of incontinentia pigmenti. We discuss the dinical features, diagnosis, and the molecular genetic basis of this rare inherited skin disorder.

Over the last years, the genetic basis of several monogenic inherited metabolic diseases has been elucidated. Interestingly, some of these disorders manifest with characteristic cutaneous symptoms that are often crucial for diagnosis. In most cases, however, besides the skin other organs are affected. Therefore, an interdisciplinary supervision of these patients is highly important. In this review we will discuss diseases that constitute a challenge not only for dermatologists but also for physicians from other specialties. A particular emphasis is put on genetic and clinical features of these disorders as well as current therapeutic concepts.

Two siblings of African origin presented with multiple scaling patches and alopecia on the scalp four weeks after returning from a vacation in Eritrea. Direct KOH examination revealed fungal elements; Trichophyton mentagrophytes and Trichophyton terrestre were identified in the fungal culture. We discuss the putative pathogenic role of both microorganisms in causing disease. Although infection with Microsporum canis currently accounts for almost fifty percent of all cases of tinea capitis in Germany, other fungi have gained importance due to tourism and increasing migration.

Borreliosis is the most common vector transmitted disease in childhood. Although the disease manifests with an erythema migrans in 80 % of the patients, multilocular skin manifestations are only observed in 2-18 % of these. Differential diagnoses of erythema migrans include erysipelas, persistent insect bite reaction, and fixed drug eruption, in particular when the clinical history does not reveal a tick bite.We report on a 5-year-old boy showing nine erythemas with central pallor on his face, trunk, arms and legs. He recalled a tick bite 3 weeks before.Serological studies revealed an acute infection with Borrelia burgdorferi. After antibiotic treatment with orally administered amoxicillin skin manifestations resolved within three days. During a follow-up period of six months the patient revealed no signs of persistent borreliosis.Multilocular erythema migrans is a possible manifestation of borreliosis and is classified as disseminated early infection which is frequently associated with systemic reactions, including malaise, arthritis, carditis, headache and even meningeal signs. Treatment is based on antibiotics, which should preferably be given intravenously in case of systemic signs.

In the course of a connatal pneumonia, a 7-day-old female newborn developed symmetrical subcutaneous nodules on her back, shoulders, and upper arms. These skin lesions were accompanied by hypercalcemia. Histological examination confirmed the putative clinical diagnosis of subcutaneous fat necrosis of the newborn. We discuss the differential diagnoses, therapeutic strategies, and prognosis of this uncommon disorder of the fat tissue.

A 56-year-old male presented with a tumor on the cheek that had developed over 5 months. Unexpectedly, histological and immunohistochemical studies revealed an adenocarcinoma of the salivary gland. We discuss the differential diagnoses of tumors of the cheek.

Over the last years, the rapid advance of discoveries in the field of molecular genetics has provided physicians and scientists with new insights into etiology and pathogenesis of several monogenetic and polygenetic human diseases. Along with remarkable progress regarding genodermatoses in general, different molecular mechanisms involved in hair growth have been elucidated and mutations causing several genetic hair disorders have been identified. We provide an overview of the molecular genetic basis and the clinical hallmarks of some diseases associated with hypertrichosis and hypotrichosis.

In recent years there has been a rapid increase in the number of dialysis-dependent diabetics in Germany. Survival on dialysis is not satisfactory and damage acquired in the preterminal stage of renal failure is thought to play an important role. Late referral to a nephrologist and insufficient quality of medical management are thought to contribute importantly to poor outcome. This hypothesis was evaluated in the present study.The data of all 173 diabetic patients (16 with type 1, 157 with type 2 diabetes, 90 men, 83 women, mean age 63.3 [31-95] years), who had been referred in 1996 for the first time to five renal units, were retrospectively assessed using a structured protocol.Patients were usually referred in advanced renal failure (median creatinine clearance 29 ml/min, range 1-216) with insufficient control of systolic (170 [120-260] mmHg) and diastolic blood pressure (90 [60-180] mmHg), insufficient antihypertensive therapy (without treatment 32 of 173 patients; median number of classes of antihypertensive agents used 2 [range 1-6]; ACE inhibitors 79 of 173 patients), high HbA1c (7.9 [4.9-15.7]%) and LDL cholesterol (176 [67-307] mg/dl). Immediate dialysis was required in 45 patients.The data document insufficient quality of treatment and late incorporation of a nephrologist into the medical team involved in the care of diabetic patients. Changes in the structure of diabetes care are necessary to improve treatment quality.

Non-operative and minimal-invasive treatment of distal radius fractures have still a poor outcome. Although bony structures often heal acceptable, additional lesions of intraarticular ligamentous structures cause persistent pain and disability. Aim of the study was to present the diagnostic and therapeutic possibilities of arthroscopically assisted treatment of distal radius fractures. Diagnostic wrist arthroscopy found in 6 of 30 patients with distal radius fractures (23 AO type C fractures) a scapho-lunate ligament tear (20%) of which 3 had to be stabilized operatively. 18 patients (60%) presented with tears of the triangular fibrocartilage complex [Palmer classification: 1A (1); 1B (5); 1D (2); 1A, 1B (2); 1A, 1D (6); 1B, 1D (2)], which were repaired by arthroscopic shaving (n = 12), Kirschner wire stabilization of ulna head (n = 2) or arthroscopic suture (n = 3). Fractures were stabilized in most cases by combinations of canulated titan screws (3.0 mm) and Kirschner wires (n = 12). In 27 patients, the radial joint surface and the distal radio-ulnar joint could be reconstructed without any specific complications. Arthroscopic reduction of distal radius fractures allows minimal-invasive reconstruction of the joint surface, diagnoses relevant ligamentous tears and should applied with incongruencies of the joint surface greater than 2 mm and in widely dislocated fractures.

The diagnostic value of MRI in acute and chronic posttraumatic wrist pain will be demonstrated in several clinical cases. The integration of MRI in a diagnostic algorithm is discussed. The indication of MRI is given for suspected complex ligamentous lesions, occult fractures and soft tissue pathologies, in particular with disconcordant clinical and radiological signs. Pathology orientated study protocols are presented. Preoperatively, MRI will be helpful in planning definitive surgical treatment.

A flow-sensitive MR sequence (phase-contrast technique) was evaluated in phantom studies with regard to factors influencing measurements and correctness of results. The sequence was additionally used for functional evaluation of operated congenital heart disease.Pulsatile and constant flow were produced with the help of a phantom. Influence of angulation, range and vessel bending was evaluated. An examination protocol was developed from the results. 35 patients with surgically repaired congenital heart disease or without repair were examined.A range preset below the actual flow velocity as well as angulation of more than 20 degrees were isolated as main pitfalls in MR flowmetry. In addition to morphological MR findings flow measurements were possible in 11 patients at vessel sites which were not or not completely suited for examination by Doppler ultrasound.The evaluated phase-contrast technique allows for fast and reliable flow quantification if the influences identified in phantom studies are considered.

The emergency room functions as a junction between preclinical and early clinical treatment of patients with multiple trauma and should have defined technical and room possibilities. The personal staff should continue resuscitation measures and perform clinical and technical diagnostic procedures according to trained algorithms. The recognition of life-threatening injuries, the set up of correct priorities and application of respective surgical procedures characterize a good emergency room management.

Free radicals and reactive oxygen species can damage cells and tissues of biological organisms. Due to the fact that these compounds are generated continuously in living cells defense mechanisms must exist. This so-called antioxidative system ensures that the formation of free radicals during different physiological processes does not result in cellular damage. Free radicals (oxidants) are produced form the immune system. The purpose of this immune cell products is to destroy invading organisms and damaged tissue. Oxidants enhance IL-1, IL-8 and TNF production in response to inflammatory stimuli. Sophisticated antioxidant defense systems like enzymes or vitamins protect directly and indirectly the host against the damaging influence of oxidants. While endogenous systems can hardly be influenced, exogenous antioxidants, delivered by the diet, can be upregulated in the body. By this way the pro-/antioxidative capacity can be balanced or even unbalanced.

375 patients with chronic fatigue syndrome (CFS) were examined using a standardized questionnaire and subsequent interview on 11 risk factors and 45 symptoms. Additionally immunologic, serologic, toxicologic, neuroradiologic, neurophysiologic and cardiologic investigations were performed. Immunologic tests showed cellular immunodeficiences particularly in functional regard (pathological lymphocyte stimulation in 50% of the patients, disorders of granulocyte function in 44%). Furthermore variable deviations were found in the lymphocyte subpopulations (CD3, CD4, CD8, CD19, DR, Leu 11 + 19). In the humoral part tendencies to low IgG-3- and IgG-1-subclass-levels occurred (59% respectively 11% of the patients) also as decreases in complement system (CH50, C3, C4, C1-esterase-inhibitor). In the group of activation markers and cytokines 42% of the investigated patients had circulating immune complexes (CIC), 47% increases of tumor-necrosis-factor (TNF-a) and 21% increases of soluble interleukin-2-receptor (IL-2-R). The increased occurrence of autoantibodies in the CFS-patients (specially antinuclear anti-bodies [ANA], microsomal thyroid antibodies) suggest, that CFS is associated with or the beginning of manifest autoimmune disease. Under the pathogens 78% of the patients had a striking serological constellation of Epstein-Barr-Virus (EBV-EA positive, low EBNA-titers), in the HHV-6-Virus 47% showed increased antibody-titers. Tests on further herpes viruses and on Borreliae, Chlamydiae, Candida and Amoebae were positive in 8 to 36% of the examined patients. Furthermore there were found variable deficits of vitamins and trace elements also as hormonal disturbances.(ABSTRACT TRUNCATED AT 250 WORDS)

Angiotensin-converting enzyme (ACE) inhibitors and calcium antagonists have, by reason of their potentially favourable pharmacological profile, become increasingly established in the treatment of hypertension in recent years. In a double-blind randomized study with an initial placebo phase, carried out by practising physicians and thus aimed at the "usual" practice patients with essential hypertension, we assessed (1) the antihypertensive effect and tolerability of an ACE inhibitor (ramipril, 5 mg/d) or a calcium antagonist (nitrendipine, 20 mg/d) given in a single daily dose, and (2) a possible age-dependent blood pressure (BP) effect of these therapies. In the 4 weeks' placebo phase, the two treatment groups were comparable as regards average age (49.6 and 49.4 years), age-range (27-67 and 25-64 years) and BP. Fifty-two patients completed the following 6 weeks' phase with active drug therapy. On ramipril (n = 26), the BP measured 24-25 hours after the last drug administration was reduced in the supine position from an average of 155/102 to 142/91 mmHg (mean reduction -10.1%) and in the upright position from 156/106 to 141/96 mmHg (-9.3%). Nitrendipine (n = 26) reduced the average BP from 155/102 to 147/94 mmHg (-6.8%) and from 155/106 to 146/99 mmHg (-6.6%) respectively. BP-lowering effects of both treatments were largely independent of age. Including the patients who discontinued the study prematurely because of side effects (1 on ramipril, 4 on nitrendipine), the "intention to treat analysis" shows BP normalization rates (diastolicor = 90 mm Hg) of 55% (ramipril) and 30% (nitrendipine) respectively.(ABSTRACT TRUNCATED AT 250 WORDS)

Between February 1989 and June 1991 the peripheral outflow resistance was measured at 45 patients during infragenual bypass surgery. In order to find out whether there is a correlation between successful bypass grafting and measured outflow resistance, all patients were controlled regularly. There was a significant difference in mean resistance between those grafts remaining patent and those that failed. 8 out of 11 bypasses, that failed up to one month after operation, had measured peripheral resistance higher than 1.1 mmHg x min/ml. 12 out of 15 bypass grafts remained patent for more than one month and had an outflow resistance less than 0.55 mmHg x min/ml. There is no definite correlation between a measured outflow resistance from 0.55 to 1.1 mmHg x min/ml because of the low number of patients in this group. The purpose of resistance measurement during peripheral vascular surgery was to determine a final value for a decision, if additional surgical or non surgical treatment for a better runoff is necessary. In our study this value is 1.1 mmHg x min/ml. Additional treatments are the peripheral AV-fistula and a jump- or sequential-graft. Another possibility is the intra- and postoperative application of Prostaglandin, which is in an experimental study in our clinic.