Predisposing factors for adverse skin reactions with percutaneous bone anchored hearing devices implanted with skin reduction techniques.

We present an analysis of adverse events after implantation of bone anchored hearing device in our patient population with focus on individual risk factors for peri-implant skin reactions. The investigation involved a chart review of adult Baha patients (n = 179) with 203 Bahas implanted with skin reduction techniques between 1993 and 2009, a questionnaire (n = 97) and a free clinical examination (n = 47). Skin reactions were graded by severity from 0 (no skin reaction) to 4 (implant loss resulting from infection) according to Holgers. We analyzed the skin reaction rate (SRR) defined as the number of skin reactions per year and the worst Holgers grade (WHG), which indicates the grade of the worst skin reaction per implant. We defined 20 parameters including the demographic characteristics, surgery details, subjective benefits, handling and individual factors. The most frequent adverse events (85 %) were skin reactions. The average SRR was 0.426 per Baha year. Six parameters showed an association with the SRR or the WHG. The clinically most relevant factors are an elevated Body Mass Index (BMI, p = 0.02) and darker skin type (p = 0.03). The SRR increased with the distance between the tragus and the implant (p = 0.02). Regarding the identified risk factors, the SRR might be reduced by selecting a location for the implant near the pinna and by specific counseling regarding post-operative care for patients with darker skin type or an elevated Body Mass Index (BMI). Few of the factors analyzed were found to influence the SRR and WHG. Since most adverse skin reactions could be treated easily with local therapy, our results suggest that in adult patients, individual risk factors for skin reactions are not a contraindication for Baha implantation. Thus, patients can be selected purely on audiological criteria.

The differential diagnosis of systemic sclerosis.

PURPOSE OF REVIEW: The new American College of Rheumatology/European League Against Rheumatism classification criteria will enable earlier diagnosis and, therefore, the use of newer treatment modalities for systemic sclerosis (SSc). It is therefore critical to exclude non-SSc causes for diffuse skin thickening as early as possible. RECENT FINDINGS: The recently described gadolinium-induced nephrogenic systemic fibrosis may mimic SSc as may other conditions which require a different treatment strategy. Recently, treatment with immunoablation and autologous stem cell transplantation has been shown to significantly benefit some patients with conditions such as scleromyxoedema and SSc. The more accurate measurement of SSc-specific autoantibodies such as topoisomerase 1, centromere and RNA polymerase has recently allowed a more precise subclassification of SSc with implications for treatment and prognosis. SUMMARY: Skin thickening is a nonspecific manifestation of many different processes including (rarely) early scleroderma, which is mostly symmetrical and associated with Raynaud's phenomenon, nailfold capillaroscopic changes and antinuclear antibodies. If the latter three factors are absent, then other conditions must be excluded, the commonest being eosinophilic fasciitis. Skin biopsy (looking for eosinophil infiltration, increased mucin or amyloid deposition), SSc-specific autoantibodies or paraproteins in blood and a careful medical history and system screening will exclude nonscleroderma conditions.

Disorders of pigmentation.

Skin color is highly individual and the variations are controlled by numerous genes. The different skin colors result from the size and number of melanosomes and do not mirror the amount of melanocytes. Disorders of pigmentation can result from migration abnormalities of melanocytes from the neural crest to the skin during embryogenesis. In addition, impairment of melanosome transfer to the surrounding keratinocytes, an alteration in melanin synthesis and a defective degradation or removal of melanin may lead to abnormal skin pigmentation. Immunologic or toxic mediated destructions of melanocytes can end in pigmentation disorders. Disorders of pigmentation are classified in hypo- or hyperpigmentation which can occur as a genetic or acquired disease. They can manifest locally or diffuse. Congenital hypopigmentation can be restricted to the skin as in piebaldism or they represent a systemic disease as in Menkes disease or phenylketonuria. Localized hypo- or hyperpigmentation in children may serve as markers for systemic diseases. Ash-leaf hypopigmentation are characteristic for tuberous sclerosis and more than 5 café-au-lait spots suggest neurofibromatosis 1 (von Recklinghausen disease). The most common autoimmune-induced depigmentation is vitiligo. Generalized hyperpigmentation only rarely reflects a primary genetic disorder but is most often from acquired diseases as in Addison disease, secondary hemochromatosis or primary biliary cirrhosis. Treatment of pigmentation disorders are based on a diagnosis which sometimes allow a specific intervention. Cosmetically acceptable results are difficult to obtain.

Unifocal Langerhans cell histiocytosis of the oral mucosa.

A 24-year-old man was admitted for a painful gingival ulcer. Histology and immunohistochemistry of a lesional biopsy revealed the diagnosis of Langerhans cell histiocytosis (LCH). To rule out multifocal disease, a complete staging was performed. There was no evidence of bony lesions or any other organ involvement. The diagnosis of LCH restricted to the oral mucosa was established. The complete oral lesion was ablated by CO(2) laser and subsequently treated topically with triamcinolone acetonide. The patient is still in remission after one year of follow-up. LCH confined to the oral mucosa is rare. It presents usually as an inflammatory or ulcerative lesion, easily leading to misinterpretation and delayed diagnosis. Patients with limited unifocal mucocutaneous disease, as in the present case, usually have an excellent prognosis. However, the oral lesion may represent an early sign of LCH, predating and progressing to an aggressive life-threatening multiorgan disease.

Pyoderma Gangrenosum and Erythema Nodosum Revealing Takayasu's Arteritis.

We report a Caucasian female who presented with simultaneous erythema nodosum and pyoderma gangrenosum due to underlying Takayasu's arteritis. Takayasu's arteritis is a chronic large vessel vasculitis of unknown cause. The disease has a worldwide distribution but is most commonly seen in Asian populations. There is a strong predilection for young females. The clinical presentation is variable, but mostly derives from stenosis or occlusion of affected arteries, resulting in claudication and ischemia. Skin manifestations are observed in up to 28% of patients with Takayasu's arteritis, with erythema nodosum reported more frequently in Caucasians. Pyoderma gangrenosum is more common in Asian patients. This report demonstrates the importance to exclude Takayasu's arteritis in patients with such skin lesions.

Palmoplantar keratodermas.

The palmoplantar skin is a highly specialized tissue which is able to resist mechanical trauma and other physical stress. In recent years the more descriptive classification of keratodermas has switched to an exact molecular genetic view where gene functions are considered. Palmoplantar keratodermas can be separated in the following functional subgroups: disturbed gene fuctions in structural proteins (keratins), cornified envelope (loricrin, transglutaminase), cohesion (plakophilin, desmoplakin, desmoglein1), cell-to-cell communication (connexins), and transmembrane signal transduction (cathepsin C). This review intends to emphasize the typical clinical aspects and symptom complexes associated with palmoplantar keratodermas which enable the astute dermatologist to make a clinical diagnosis. In addition the molecular genetic knowledge on the topic is given which is necessary to confirm the clinical diagnosis.

Nail changes in genodermatoses.

Nail changes may be marker lesions for complex systemic disorders and herald associated syndromes. Knowledge of the anatomy, embryology and biochemical properties of the nail apparatus is essential for understanding the pathogenesis of hereditary nail disorders. In the last few years significant progress has been made in the field of clinical and molecular pathology of human diseases. A considerable number of the genes responsible for genodermatoses have been identified. The homeobox master control genes, genes encoding for transcription factors, genes encoding for the maintenance of telomeres, or for structural molecules, such as the similarly evolutionary highly conserved a-helical rod domains of keratins, are involved in the embryogenesis and normal functioning of nails. Using nail changes in selected genodermatoses with a known genetic background, we try to elucidate the genesis of inherited nail disorders and review the resultant clinical manifestations.

Cowden disease or multiple hamartoma syndrome--cutaneous clue to internal malignancy.

Cowden disease (CD) #158350, also known as multiple hamartoma syndrome, is a multisystemic cancer predisposition disorder, inherited in an autosomal dominant pattern. Mucocutaneous lesions are the most constant features: facial papules, acral keratoses and oral papillomatosis. The most common associated cancers are breast, thyroid and endometrial carcinomas. The CD gene locus has been mapped to chromosome 10q22-23. Subsequently the tumor suppressor gene PTEN was located to this chromosomal region and soon after germline mutations in the PTEN gene were demonstrated in CD patients. Somatic PTEN mutations have been found in a variety of sporadic cancers. So CD is an important clinical and genetic model for carcinogenesis. We recently observed four cases of CD and reviewed the literature on CD over the last 40 years, in particular the clinical and histopathological features, genetics, and diagnostic criteria. Based on these data we propose a possible management of CD patients. With increased knowledge and awareness of the typical mucocutaneous lesions an earlier diagnosis and an appropriate cancer surveillance of these patients might be possible.

Dermatology of the lips: inflammatory diseases.

The sensitive transitional skin of the lips is a favored site for primary skin diseases, especially eczematous dermatitis. An inflammatory condition of the lips, eg chapped lips (cheilitis sicca) in atopic eczema, may be the only manifestation of a skin disease or appear as part of a generalized dermatosis. Inflammatory changes to the lips also occur in the context of systemic disorders such as lupus erythematosus or in allergic diseases. This article presents the most frequent and the most important forms of inflammatory cheilitis.

Diagnosis and treatment of lichen sclerosus: an update.

Lichen sclerosus (LS) is a chronic, inflammatory, mucocutaneous disorder of genital and extragenital skin. LS is a debilitating disease, causing itch, pain, dysuria and restriction of micturition, dyspareunia, and significant sexual dysfunction in women and men. Many findings obtained in recent years point more and more towards an autoimmune-induced disease in genetically predisposed patients and further away from an important impact of hormonal factors. Preceding infections may play a provocative part. The role for Borrelia is still controversial. Trauma and an occlusive moist environment may act as precipitating factors. Potent and ultrapotent topical corticosteroids still head the therapeutic armamentarium. Topical calcineurin inhibitors are discussed as alternatives in the treatment of LS in patients who have failed therapy with ultrapotent corticosteroids, or who have a contraindication for the use of corticosteroids. Topical and systemic retinoids may be useful in selected cases. Phototherapy for extragenital LS and photodynamic therapy for genital LS may be therapeutic options in rare cases refractory to the already mentioned treatment. Surgery is restricted to scarring processes leading to functional impairment. In men, circumcision is effective in the majority of cases, but recurrences are well described. Anogenital LS is associated with an increased risk for squamous cell carcinoma of the vulva or penis. This review updates the epidemiology, clinical presentation, histopathology, pathogenesis, and management of LS of the female and male genitals and extragenital LS in adults and children.

Anti-inflammatory treatment.

Inflammatory mucosal disorders are treated conventionally with potent or superpotent topical corticosteroids. For more than 20 years, topical cyclosporine has been used in the management of oral mucous membrane affections. Recently other topically applied calcineurin inhibitors, namely tacrolimus and pimecrolimus, expanded the armamentarium for the treatment of inflammatory mucosal diseases. This chapter places its main emphasis on the efficacy and safety of topical calcineurin inhibitors in the management of different oral and genital conditions, including anogenital lichen sclerosus (LS), oral and genital lichen planus, plasma cell balanitis and vulvitis, mucous membrane pemphigoid and pemphigus vulgaris, all conditions having usually a protracted course, requiring long-lasting treatment. There is current evidence for the effectiveness of both pimecrolimus and tacrolimus in the topical treatment of inflammatory oral mucosal diseases and genital dermatoses, especially oral lichen planus and genital LS.

Missing creases of distal finger joints as a diagnostic clue of nail-patella syndrome.

Nail-patella syndrome (NPS, OMIM 161200) is an autosomal dominant disorder with a clinical characteristic tetrad consisting of fingernail dysplasia, hypoplastic or absent patellae, bony protuberances of the ilia (iliac horns) and dislocation of the radial head. Kidney involvement may lead to renal failure, and there is an increased risk for glaucoma. Clinical diagnostic skin clues are triangular lunulae especially on the thumbs which are highly predictive for the NPS. A less known but even more important sign is the absence of skin creases on the dorsal aspects of the distal interphalangeal joints. Even in patients with normal nails the absence of distal interphalangeal creases was noted. Less specific skin changes are webbing between digits, within the popliteal fossae, hyperextensible joints, absent or fragile nails and grooved nails and longitudinal ridging with splitting. With increasing costs in the health care system, it is important to recognize diseases by specific clinical findings which are often as predictive and precise as expensive technical investigations.

HIV dermatology in Switzerland--from the beginning to the present.

The panendemic of HIV has markedly influenced the dermatology of our generation. This new infection produced atypical manifestations of known dermatological diseases. And beyond that, mucocutaneous diseases emerged, which had not yet been described. Classical epidemiological studies concluded that clustering of AIDS cases could be explained only if AIDS was an infection transmitted by sexual activity or blood. Switzerland was hit early on by the HIV epidemic, and Theo Rufli, the leading expert on sexually transmitted diseases in our country, was involved from the beginning. He contributed with his team to a better delineation of the cutaneous manifestations of HIV infection by directing one of the largest prospective studies on the natural course of cutaneous manifestations of HIV. In addition, he participated in studies which documented new skin diseases in HIV-infected patients. From the very beginning of the epidemic in Switzerland, Theo Rufli founded an organization which helped patients cope with their diagnosis. In Basel, an anonymous consultation facility was established. Theo Rufli also strongly supported the 'Stop AIDS' campaign. This review looks back on the history of HIV in Switzerland and especially in Basel.

Hair shaft abnormalities--clues to diagnosis and treatment.

Hair dysplasias are congenital or acquired alterations which often involve the hair shaft. Hair shaft abnormalities are characterized by changes in color, density, length and structure. Hair shaft alterations often result from structural changes within the hair fibers and cuticles which may lead to brittle and uncombable hair. The hair of patients with hair shaft diseases feels dry and looks lusterless. Hair shaft diseases may occur as localized or generalized disorders. Genetic predisposition or exogenous factors produce and maintain hair shaft abnormalities. Hair shaft diseases are separated into those with and those without increased hair fragility. In general, optic microscopy and polarized light microscopy of hair shafts provide important clues to the diagnosis of isolated hair shaft abnormalities or complex syndromes. To establish an exact diagnosis of dysplastic hair shafts, a structured history and physical examination of the whole patient are needed which emphasizes other skin appendages such as the nails, sweat and sebaceous glands. Profound knowledge on hair biology and embryology is necessary to understand the different symptom complexes. Therapy of hair shaft disorders should focus on the cause. In addition, minimizing traumatic influences to hair shafts, such as drying hair with an electric dryer or permanent waves and dyes, is important. A short hairstyle is more suitable for patients with hair shaft disorders.

Plaque-type blue nevus of the oral cavity.

BACKGROUND: The blue nevus of the oral cavity is a rare lesion with important differential diagnoses. The plaque-type blue nevus is an uncommon variant of the blue nevus. Because of its particular clinical appearance, it can easily be confused with satellite metastases from malignant melanoma. The diagnosis usually requires a biopsy. OBJECTIVES: To describe the clinical and histological features of a plaque-type blue nevus of the buccal mucosa in a 20-year-old white woman, to review all intraoral blue nevi and all plaque-type blue nevi reported in the literature so far and to compare the criteria of blue nevi and nevus of Ota. RESULTS: An intraoral blue nevus was described for the first time in 1959. Since then around 70 further cases have been documented. Our case is the first report of a plaque-type blue nevus of the oral cavity. CONCLUSIONS: The exceptional widespread intraoral blue nevus described herein can clinically be confused with an intraoral malignant melanoma, and it has a very similar clinical appearance as the intraoral part of nevus of Ota. Apart from the clinical resemblance, there is also some degree of histological overlap of the dermal melanocytoses. Transitional states between blue nevus and nevus of Ota may occur clinically and histologically.

V-shaped, longitudinal nail dystrophies in trichorhinophalangeal syndrome type I.

Trichorhinophalangeal syndrome (TRPS) is a rare genodermatosis with growth retardation, craniofacial abnormalities, alopecia and brachyphalangia. Three subtypes with considerable clinical overlap can be separated. Numerous nail changes have been documented in this syndrome. We observed a 19-year-old female with typical TRPS I who developed unique V-shaped longitudinal nail dystrophies on both hands. TRPS belongs to the spectrum of ectodermal dysplasias, and therefore it is not surprising that cutaneous adnexal structures are involved in different ways.

Acquired perforating dermatosis in a patient with Poland syndrome.

Acquired perforating dermatosis (APD) is characterized by umbilicated 1- to 10-mm-measuring papulonodules with a central adherent oystershell-like keratotic plug, typically on the dorsa of the hands, forearms and over the knees. APD is associated with systemic diseases, especially diabetes mellitus and/or renal failure. Histologically the lesions show transepidermal elimination of altered dermal components into a cup-shaped epidermal depression. We present a 69-year-old man with coexisting APD and Poland syndrome (PS), an association not yet described. PS (OMIM 173800) is a rare congenital anomaly consisting of unilateral partial or total absence of the greater pectoralis muscle and ipsilateral symbrachydactyly. Most cases of PS are sporadic as it was in our case. Our patient had, in addition, an untreated diabetic condition, hyperuricaemia, dilated cardiomyopathy and a very recent pulmonary embolism. He responded to therapy with allopurinol.

Ectodermal dysplasias.

Ectodermal dysplasias are a large group of heritable conditions characterized by congenital defects of one or more ectodermal structures and their appendages: hair (hypotrichosis, partial, or total alopecia), nails (dystrophic, hypertrophic, abnormally keratinized), teeth (enamel defect or absent), and sweat glands (hypoplastic or aplastic). The ectodermal dysplasias, as a rule, are not pure "one-layer diseases." Mesodermal and, rarely, endodermal dysplasias coexist. Embryogenesis exhibits distinct tissue organizational fields and specific interactions among the germ layers that may lead to a wide range of ectodermal dysplasias when genes important for development are mutated or otherwise altered in expression. Of the approximately 200 different ectodermal dysplasias, about 30 have been studied at the molecular level with identification of the causative gene. Freire-Maia and Pinheiro used the clinical aspects for their classification, and Priolo integrated molecular genetic and clinical aspects for her scheme. Those two more historical classification schemes have the difficulty that, when applied strictly, several additional groups of diseases should be integrated within the term "ectodermal dysplasias," e.g. keratodermas with skin or hair alterations or the ichthyoses with associated features. Such consequent classification would lead to an endless list of diseases and would be useless for the practical work. Recent evidence implicates a genetic defect in different pathways orchestrating ectodermal organogenesis. Modern molecular genetics will increasingly elucidate the basic defects of the different syndromes and yield more insight into the regulatory mechanisms of embryology. In this way, a reclassification of ectodermal dysplasias will be possible according to the function of their involved mutated genes. Lamartine recently proposed a helpful classification according to the functions of the genes discovered in different types of ectodermal dysplasias. Accordingly, the present overview categorizes the various ectodermal dysplasias into four major functional subgroups: cell-cell communication and signaling, adhesion, transcription regulation, and development.