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Biomedical subjects

Peter H Itin

Publications and source records attributed to Peter H Itin.

At least 19 recordsLinked to original sources
PubMed2006

Eosinophilic fasciitis 30 years after - what do we really know? Report of 11 patients and review of the literature.

BACKGROUND: Eosinophilic fasciitis (EF) is a rare fibrosing disorder associated with peripheral eosinophilia and scleroderma-like induration of the distal extremities which affects substantially quality of life. Although the disease has been described 30 years ago, the etiology and pathomechanisms are still obscure, and consensus for therapy is lacking. Numerous case reports of patients with EF exist but series are scarce. PATIENTS AND METHODS: Eleven patients with EF from the Department of Dermatology, Kantonsspital Aarau, the University Hospital Basel and the Outpatient Clinic of Dermatology, Triemli Hospital Zurich, Switzerland, were retrospectively studied. RESULTS: In 4 patients the initial diagnosis was not recognized by the referring nondermatologists. The median age was 55 years, excluding the youngest patient ever diagnosed with EF (age = 1 year). All patients showed an induration of the skin, which led to painful contractures in the joints in 3 cases. All but 2 patients demonstrated edema. A slight predominance of the upper extremities was observed. Sclerodactyly was noticed in 1 patient. Three patients reported an initial trauma at the affected site. Two patients were tested positive for borreliosis. One patient subsequently developed aplastic anemia and Hashimoto thyroiditis. Visceral or extracutaneous involvement was absent. Eight patients had a full or partial recovery under corticosteroids whereas in 2, improvement could be achieved only with cyclosporine, azathioprine or cyclophosphamide. CONCLUSIONS: The diagnosis of EF can be established by clinical, laboratory and histological findings. In general, corticosteroids are highly efficacious in EF and only a minority of patients need other immunosuppressive or cytostatic drugs.

Adult↗
PubMed2006

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.

Adult↗
PubMed2005

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.

Dermatology↗
PubMed2005

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.

Genetic Predisposition to Disease↗
PubMed2005

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.

Abnormalities, Multiple↗
PubMed2005

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.

Adolescent↗
PubMed2004

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.

Cell Adhesion↗
PubMed2004

Teaching effects of dermatological consultations on nondermatologists in the field of internal medicine. A study of 1290 inpatients.

BACKGROUND: Scarce data exist concerning dermatological consultations within departments of internal medicine. To date, no survey has been carried out in Switzerland to elucidate this issue. The aim of this study was to analyze the spectrum of skin diseases internists are confronted with and to study their diagnostic accuracy in cutaneous diseases. In addition, we wanted to evaluate the motivation for dermatologists to cooperate closely with internists. PATIENTS AND METHODS: The study included patients with dermatological problems treated at the Department of Internal Medicine at the Kantonsspital Aarau, Switzerland. All patients had been referred to the Department of Dermatology for examination between 1999 and 2001. Patient data were analyzed demographically, by referral modus, diagnoses and therapy. To evaluate the knowledge of internists and dermatologists in cutaneous medicine, 15 clinical slides of common dermatoses with a patient history were shown and asked for diagnostic suggestions to 32 internists of the Kantonsspital Aarau and to 13 dermatologists of the University Hospital Basel, Switzerland. RESULTS: 1290 patients were referred to the Department of Dermatology. 1737 dermatological diagnoses were made including 348 different dermatoses. Eczema was the single most common diagnosis (12.6%), followed by actinic and bowenoid precancerosis (6.2%), drug eruption (4.2%), verrucae (4%) and mycosis (3.8%). The top ten diagnoses accounted for 41.7% of all skin-related diagnoses. Infection-related dermatoses were most common (20.5%) followed by different types of eczema (12.6%), malignant cutaneous tumors and malignant visceral conditions (11.2%). Local therapy was prescribed in 64.2% and systemic therapy in 22.6% of the patients. 15.9% did not receive specific therapy because the consultation request was only a diagnostic one. 146 skin biopsies were performed (11.3%). Systemic diseases with cutaneous manifestations accounted for 15.7%. In general, these conditions were not commonly seen by dermatologists in daily practice. The internists recognized 51.1% of the cutaneous manifestations during examination and 49% when presented with slides. CONCLUSIONS: Internists are confronted with a different spectrum of cutaneous diseases compared with dermatologists. Due to the broad spectrum of skin diseases, it is a challenging task for internists to recognize dermatoses. Our study elucidates that patients, internists and dermatologists may profit from a close cooperation.

Aged↗
PubMed2003

Reticular erythrokeratoderma: a new disorder of cornification.

Heritable disorders of cornification form a large, clinically and genetically heterogeneous group. Recent advances in molecular genetics provide for the first time the opportunity to reliably classify some of these disorders based on their underlying etiology. Many rare phenotypes, however, still remain unclassified and do not fit into established classification schemes. We report here a 12-year-old girl who developed an ichthyosis vulgaris-like skin disorder 6 months after birth. Several years later, the clinical features had changed considerably. The patient had developed streaks of hyperkeratotic, slightly scaling skin with underlying erythema distributed in a reticulate, occasionally annular pattern on the trunk and extremities. The lesions were stable and had not changed significantly in size or distribution over the ensuing years. Histopathologic and ultrastructural findings were nonspecific and there was no evidence for metabolic disorders. The partial clinical overlap with erythrokeratodermia variabilis prompted us to screen several connexin genes but no pathogenic mutations were identified. We believe that this disorder belongs to the group of erythrokeratodermas and represents a novel, previously unrecognized entity.

Child↗
PubMed2003

Arthritis and interstitial granulomatous dermatitis (Ackerman syndrome) with pulmonary silicosis.

OBJECTIVE: To describe the case of a patient suffering from pulmonary silicosis associated with a rheumatoid factor negative, antinuclear antibody positive, symmetrical, nonerosive synovitis, and interstitial granulomatous dermatitis (IGD) and compare it with similar cases reported in the literature. METHODS: Literature search to identify published cases of IGD with arthritis and cases associated with silicosis. RESULTS: Thiry-eight cases of IGD with arthritis were found. These cases were associated with various conditions such as drug reactions, autoimmune diseases, chronic infections, or paraneoplastic syndromes for which no specific underlying cause was identified. The patient had skin lesions corresponding to the rope sign, as noted in other reports. Histology showed a histiocytic, granulomatous dermatitis, which, in association with arthritis, was first described by Ackerman et al. Circulating immune complexes or altered apoptosis have been discussed as mechanisms, although there is no experimental evidence to support either hypothesis. As in other cases, treatment had limited success. Most relief was achieved with hydroxychloroquine, dapsone, and corticosteroids. CONCLUSIONS: Arthritis and IGD associated with silicosis is a rare clinical entity that can be differentiated from other conditions. This condition should be considered when patients present with typical dermatologic features, such as the rope sign, and arthritis.

Adult↗
PubMed2003

Identification of human papillomavirus DNA in cutaneous lesions of Cowden syndrome.

BACKGROUND: Cowden syndrome (CS) or multiple hamartoma syndrome is a cancer-associated genodermatosis inherited in an autosomal dominant pattern. One of the diagnostic criteria is facial papules which are felt to be trichilemmomas, benign hair follicle tumors, which some consider to be induced by human papillomavirus (HPV). OBJECTIVE: To search for HPV in skin tumors, especially trichilemmomas, from patients with CS. METHODS: Skin lesions from patients with CS were classified histologically. Each tumor was then analyzed for HPV DNA by polymerase chain reaction with different primer sets; positive amplicons were typed by direct sequencing. RESULTS: Twenty-nine biopsies from 7 patients with CS were investigated. Only 2 of 29 tumors clinically suspected of being trichilemmomas were confirmed histologically. In addition, 3 sclerotic fibromas, also typical of CS, were found, as well as 1 sebaceous hyperplasia. The other 23 lesions showed histological features of HPV- induced tumors in various stages of development. HPV DNA was found in 19 of 29 cutaneous lesions. Tumors without any histological signs of HPV induction were negative for HPV DNA. Two tumors which were histologically classified as common warts contained HPV types 27 and 28. All the 17 other HPV types belong to the group of epidermodysplasia-verruciformis-associated types. CONCLUSIONS: The majority of cutaneous lesions in CS contain HPV DNA. They may have a variety of histological patterns. Trichilemmomas are not clinically distinctive and can be difficult to identify in CS patients.

Adolescent↗
PubMed2003

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.

Aged↗
PubMed2002

Darier disease with paired segmental manifestation of either excessive or absent involvement: a further step in the concept of twin spotting.

For the first time, we describe a case of type 2 segmental Darier disease with concomitant band-like areas of healthy skin. This clinical observation gives a further hint for the understanding of type 2 segmental manifestations in autosomal dominant diseases. We had observed a 17-year-old patient with Darier disease since the age of 13 years. On the frontal aspect of his body, the lesions were found to be diffusely and rather symmetrically disseminated. On the back, however, a band-like pattern of pronounced involvement with concomitant streaks of healthy skin, both following the lines of Blaschko, was noted. Type 2 segmental manifestation of autosomal dominant disorders can be explained by the assumption that the individual carries a germline mutation that gives rise to a diffuse, nonsegmental distribution of the disease. In addition, a postzygotic mutation occurring at an early developmental stage would result in loss of heterozygosity and give rise, in a segmental area, to a homozygous or hemizygous state of the mutation. This would explain the enhanced severity of the segmental lesions. Theoretically, an early event of mitotic recombination should give rise, simultaneously, to a clone of cells that are homozygous for the corresponding wild-type allele, and for this reason paired segmental areas of either excessive or absent involvement, in the form of twin spotting, should occur on the background of an ordinary, nonsegmental phenotype, as exemplified by Happle and König in a case of epidermolytic hyperkeratosis of Brocq. These authors stated that, in autosomal dominant skin disorders, segmental areas of healthy skin will usually be difficult to recognize. This may explain why such a twin spot phenomenon has so far not been encountered in Darier disease.

Acitretin↗
PubMedDate not supplied

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.

Biopsy, Needle↗
PubMedDate not supplied

Acquired leukoderma in congenital pigmented nevus associated with vitiligo-like depigmentation.

We report a 6-year-old boy who developed depigmentation within a congenital melanocytic nevus at the age of 3 years. During the following months a halo phenomenon and vitiligo-like lesions distant from the nevus appeared. A thorough search for malignant melanoma was negative. A second patient, a 45-year-old woman, had a large congenital nevus on the trunk with marked satellitosis. At the age of 20 years, partial regression of the large nevus occurred and, in addition, halos developed around almost all smaller nevi. Repeated searches for associated malignant melanoma were negative. We review the rare cases of halo congenital nevi and emphasize that depigmentation is not necessarily associated with malignant degeneration.

Child↗
PubMedDate not supplied

Epidemiology of pediatric dermatology and allergology in the region of Aargau, Switzerland.

Pediatric dermatology is a new topic and no epidemiologic data exist from Switzerland. Therefore we performed a survey of the pediatric population referred to the hospital of Aarau, Switzerland, between 1998 and 2001. All inpatients and outpatients less than 16 years old with a dermatologic diagnosis were included prospectively in our study. Demographic data (age, mean age, sex distribution), referral method, pattern and frequency of the different diagnoses in various age groups, diagnostic pattern, and therapy were analyzed. A total of 1105 children were included, with a slightly higher proportion of girls (53.8% versus 46.2%). The average age was 6.8 years and infants and school children represented 60% of the study population. Half of the patients (51%) were external referrals, almost one-third (29%) presented spontaneously, and the remaining 20% were sent from other hospital departments. With a frequency of 25.9%, atopic dermatitis was the most frequent diagnosis, followed by pigmented nevi (9.1%) and warts (5.0%). Local therapy was prescribed in 66% of patients and systemic therapy in 18.6%. Other treatments such as curettage, surgery, cryotherapy, ultraviolet therapy, and electrotherapy were rarely performed (2%). We found that atopic dermatitis was the most frequent skin disorder seen in all age groups. As this was a dermatologic subspecialty clinic, higher frequencies of chronic and uncommon dermatoses such as genetic and autoimmune diseases were seen, whereas frequent diagnoses such as diaper rash and miliaria were rarely seen and the frequencies of other common skin disorders such as scabies, pediculosis, impetigo contagiosa, warts, and molluscum contagiosum were expected to be higher compared with the figures in the literature. In our study these dermatoses are underreported, as most patients are treated by general practitioners and pediatricians. Our survey documents the most common skin diseases in childhood primarily seen by pediatricians. We emphasize that dermatologic education of medical students, primary care physicians, and pediatricians should focus on allergic skin diseases, skin infections, pigmentary disorders, and vascular lesions.

Adolescent↗