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Biomedical subjects

P H Itin

Publications and source records attributed to P H Itin.

At least 19 recordsLinked to original sources
PubMed2004

Cutaneous plasmablastic lymphoma in an HIV-positive male: an unrecognized cutaneous manifestation.

Plasmablastic lymphoma (PBL) is a rare and relatively new entity originally described in HIV-infected individuals. This subset of Epstein-Barr-virus (EBV)-related non-Hodgkin lymphomas is now regarded as a distinct clinicopathological category of AIDS-associated lymphomas occurring preferentially in the oral cavity and showing a poor prognosis. We describe for the first time an EBV-associated PBL with an isolated cutaneous distribution on the lower extremities in an HIV-infected heterosexual male and point to the unique clinical, morphological and immunophenotypic characteristics of this lymphoma. The patient presented with fast growing solid and livid nodules on both legs. The large, blastic tumor cells showed the following immunophenotype: CD138+, CD45+, CD20-, CD10-, CD3-, CD30-, bcl-2-, bcl-6-, LMP-1- and EMA-. The proliferation fraction (Mib-1) was >90%. EBV association was demonstrated by in situ hybridization (EBV-encoded RNAs 1/2). Polymerase-chain-reaction-based DNA analysis demonstrated a clonal IgH rearrangement in the absence of a bcl-2/IgH translocation. PBL in HIV patients may occur not only in the oral cavity, but can probably involve any other organs including the skin.

Adult↗
PubMed2003

[Genetic counseling and DNA testing in patients with increased risks for malignant melanoma].

There are numerous risk factors for the development of malignant melanoma. It has been documented that genetic predisposition exists but exogenous factors are also very important. In familial melanomas it has been well established that mutation in the CDKN2A gene which is located at chromosome 9 leads to a marked risk for malignant melanoma. This tumor-suppressor gene is important for the regulation of the cell cycle and mutation in this gene is associated also with an increased rate of pancreas cancer. The penetrance of this mutation is influenced by UV-energy. In addition it has been shown that a second cluster for the familial atypical nevus syndrome is located at chromosome 1p36. Patients with the rare disease xeroderma pigmentosum have a defect in the DNA-repair mechanism inherited in an autosomal recessive trait and therefore develop within the first 20 years of life numerous malignant skin tumours including malignant melanomas. But also in non-syndromic patients a decrease of DNA-repair ability may occur. It has been shown recently that reduced DNA-repair ability is an independent risk factor for malignant melanoma and may contribute to susceptibility to sunlight-induced melanoma among the general population. Other constitutional risk factors for the development of malignant melanoma are fair skin, red hair and blue eyes. The most important exogenous risk factor is UV-exposition. Extensive and repetitive sunburns before the age of 15 years are especially predisposing to malignant melanoma. The most important preventive measures are continuous sun-protection including avoidance of sun in noon time on tropical and subtropical places, wearing a hut and sunglasses and application of sun-screens with high sun-protection factor. Furthermore a regular check for changing moles is indicated in persons with multiple atypical nevi or a familial melanoma syndrome. Nowadays molecular genetic screenings are available within research projects for members of melanoma-prone families. The controversy of such possibilities is discussed.

Adolescent↗
PubMed2002

[Hair shaft abnormalities].

Hair shaft disorders may lead to brittleness and uncombable hair. In general the hair feels dry and lusterless. Hair shaft abnormalities may occur as localized or generalized disorders. Genetic predisposition or exogenous factors are able to produce and maintain hair shaft abnormalities. In addition to an extensive history and physical examination the most important diagnostic examination to analyze a hair shaft problem is light microscopy. Therapy of hair shaft disorders should focus to the cause. In addition, minimizing traumatic influences to hair shafts, such as dry hair with an electric dryer, permanent waves and dyes is important. A short hair style is more suitable for such patients with hair shaft disorders.

Diagnosis, Differential↗
PubMed2002

Hereditary, focal, transgressive palmoplantar keratoderma with associated clinical findings: a new entity?

We report on a 24-year-old male originating from Yugoslavia with a focal, transgressive palmoplantar keratoderma presumably inherited as an autosomal recessive trait. Associated clinical findings were hyperkeratotic lichenoid papules on the knees and elbows, psoriasis-like lesions in the groins and on the scalp, a spotty or reticulate hyperpigmentation of the face, trunk and extremities and a partial alopecia of the left eyebrow and eyelashes. The patient's sister was affected by similar but less pronounced cutaneous changes. Although our case shares some similarities with other hereditary palmoplantar keratodermas there remain substantial differences. We therefore believe this case to represent a new entity.

Adult↗
PubMed2002

Aquagenic syringeal acrokeratoderma (transient reactive papulotranslucent acrokeratoderma).

In 1996, English and McCollough described an unusual entity in 2 sisters characterized by a transient and recurrent keratoderma exclusively on the palms after water exposure. The condition developed 3-5 min after exposure to water and resolved within a short time after drying. This finding was associated with a tightening sensation. Yan et al. coined the term 'aquagenic palmoplantar keratoderma', and the designation 'aquagenic syringeal acrokeratoderma' was suggested by MacCormack et al. Until now, a total of 8 cases have been reported. We documented 2 new cases with acquired aquagenic syringeal acrokeratoderma. A 25-year-old female had observed within the last 3 months a burning sensation on the palms after some minutes of water contact. Physical examination revealed a perfectly normal skin on the palms. Three minutes after water immersion of 20 degrees C, a whitish discoloration appeared on the palms and a thickening of the palmar skin was visible. In addition, the eccrine pores were much more prominent. Few minutes after drying the skin, the situation returned to a normal state. The second patient, a 33-year-old female noticed a painful whitish discoloration of the skin on the palms after a short period of water immersion. Sometimes the white skin could be peeled off. In the last year, hyperhidrosis developed, and a more reddish aspect of the palms appeared. In our office after rinsing the hands with water at room temperature, a whitish discoloration in the center of the palms appeared which was associated with a painful sensation. After drying, the whitish lesions disappeared almost completely within 30 min. Aquagenic palmar keratoderma describes an acquired and transient condition which occurs after brief exposure to water and disappears after drying within minutes to an hour. Only rarely may a slight hyperkeratosis remain for a longer time. The possible pathophysiology and treatment options are discussed.

Acrodermatitis↗
PubMed2001

[Multiple pigmented basalioma of the scalp in a patient with Curschmann-Steinert myotonia dystrophica. Confirmation of a rare symptom constellation].

A 50-year-old woman presented with myotonic dystrophy (Curschmann-Steinert disease) and multiple pigmented basal cell carcinomas of the scalp. She also had typical androgenetic alopecia seen in this disorder. In 1986 Stieler and Plewig described the first patient with myotonic dystrophy and multiple basal cell carcinomas. There may be a genetic predisposition for cutaneous tumors with follicular origin, as multiple pilomatricomas also occur frequently in such patients.

Alopecia↗
PubMed2001

[Acne inversa: a dapsone-sensitive dermatosis].

Acne inversa is a chronic disease with a major impact on the quality of life. Therapeutic options were long restricted to local disinfectants and systemic antibiotics, as well as repeated incision and drainage which produce only short term benefits. Retinoids, antiandrogens and radiation therapy are only partially successful. The best approach appears to be surgical removal of the entire apocrine sweat gland apparatus. Dapsone is used in dermatology to treat inflammatory dermatoses such as dermatitis herpetiformis and pyoderma gangrenosum, and was formerly the treatment of choice for acne conglobata. We report its successful use in acne inversa. Five female patients aged 23-40 years with acne inversa for a mean of 9.6 years were included. All patients showed an almost complete resolution of their symptoms within 2-4 weeks. All patients rated the treatment results with dapsone as good or very good. The treatment was well tolerated and no important side effects occurred. Because of its lack of teratogenicity, dapsone may be the most favorable treatment option in young women with acne inversa.

Acne Vulgaris↗
PubMed2001

Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes.

Trichothiodystrophy (TTD) refers to a heterogeneous group of autosomal recessive disorders that share the distinctive features of short, brittle hair and an abnormally low sulfur content. Within the spectrum of the TTD syndromes are numerous interrelated neuroectodermal disorders. The TTD syndromes show defective synthesis of high-sulfur matrix proteins. Abnormalities in excision repair of ultraviolet (UV)-damaged DNA are recognized in about half of the patients. Three distinct autosomal recessive syndromes are associated with nucleotide excision repair (NER) defects: the photosensitive form of TTD, xeroderma pigmentosum, and Cockayne syndrome. The unifying feature of these conditions is exaggerated sensitivity to sunlight and UV radiation. In contrast to patients with xeroderma pigmentosum, no increase of skin cancers in patients with TTD has been observed. Genetically, 3 complementation groups have been characterized among photosensitive patients with TTD. Most patients exhibit mutations on the two alleles of the XPD gene. Rarely, mutated XPB gene or an unidentified TTD-A gene may result in TTD. In UV-sensitive TTD, the TFIIH transcription factor containing XPB and XPD helicase activities necessary for both transcription initiation and DNA repair is damaged. Beyond deficiency in the NER pathway, it is hypothesized that basal transcription may be altered leading to decreased transcription of specific genes. Depressed RNA synthesis may account for some clinical features, such as growth retardation, neurologic abnormalities, and brittle hair and nails. Therefore the attenuated expression of some proteins in differentiated cells is most likely explained by a mechanism distinct from DNA repair deficiency. The first transgenic mouse models for NER deficiencies have been generated. The TTD mouse as well as related cell models will provide important tools to understand the complex relationships between defects in DNA repair, low-sulfur hair shaft disorders, and the genotype-phenotype correlates for this constellation of inherited disorders, including the lack of predisposition to cancer in patients with TTD.

Animals↗
PubMed2001

Syndactyly/brachyphalangy and nail dysplasias as marker lesions for sclerosteosis.

Sclerosteosis describes an autosomal recessive form of hyperostosis corticalis generalisata (MIM 239100). Sclerosteosis is primarily a disorder of osteoblast hyperactivity and metabolic abnormalities are not present. Besides generalized bone changes the presence of asymmetric cutaneous syndactyly of the index and middle fingers is characteristic. In many cases this syndactyly is associated with nail dysplasia and therefore dermatologists should recognize this clinical finding as a possible marker of this entity. We report on a 36-year-old female of Greek origin who had had finger and nail dysplasias and facial asymmetry since birth. The patient was hospitalized on the Neurology ward because of increasing spastic and ataxic gait disturbances. Physical examination revealed numerous neurological problems resulting from bony compression of nerves. Furthermore the patient had remarkably deformed fingers with hypoplasia of the second finger on both sides. The nails were dysplastic, especially on both index fingers. All laboratory results concerning metabolic diseases were normal. It has been shown that sclerosteosis is clinically and radiographically very similar to van Buchem disease. Through a genome-wide search with a highly polymorphic microsatellite the gene responsible for van Buchem disease has been mapped to 17q12-q21, and Balemans et al. (1999) assigned the locus for sclerosteosis to the same region providing genetic support for the hypothesis of allelism. Dermatologists should be able to interpret such syndactyly associated with nail deformities as a possible hint for the diagnosis of sclerosteosis in patients with hyperostotic features.

Adult↗
PubMed2001

Late-onset eccrine angiomatous hamartoma: clinical, histological and imaging findings.

Eccrine angiomatous hamartoma (EAH) is an exceedingly rare benign tumor-like lesion prevalent in childhood which may produce pain and marked sweating. Although an aggressive treatment is not generally indicated, surgery may be considered in severe cases. In this report we present novel morphological findings by immunophenotyping, document the first MRI findings in EAH and emphasize the importance of preoperative imaging of such lesions.

Aged↗
PubMed2000

[Skin check-up--who and when?].

The skin is easy to access and therefore this organ is also an important diagnostic tool for the general practitioner to establish a systemic and complex disease. In addition skin cancer is the most prevalent malignancy and therefore non-dermatologists should be able to make the diagnosis of an early skin cancer. It is recommended to perform a whole body examination in all first visits. With experience a whole skin check lasts no longer than five minutes. It is important to recognise patients at risk for skin malignancies because they clearly profit from a regular screening. Patients with atypical moles or with familial melanoma syndrome and patients who already had malignant melanoma should get a yearly skin examination performed by a trained expert. Patients who had basal cell carcinoma run an almost 50% risk to produce a second basal cell carcinoma within three to five years and therefore they are good candidates for a screening at a regular base. The number of organ transplanted people is rising dramatically. In general these patients are under marked immunosuppression and therefore they often develop malignancies of the skin. In our Department such patients receive at least one dermatological visit a year.

Basal Cell Carcinoma↗
PubMed2000

Segmental manifestation of Darier disease. What is the genetic background in type 1 and type 2 mosaic phenotypes?

Darier disease is an autosomal dominant disorder which may occasionally become manifest in a segmental form. Two clinical phenotypes with a different genetic background have been elaborated in recent years. More than 50 patients with isolated linear disease expression have been documented. In this phenotype the skin outside the segmental affection is absolutely normal. Such a phenotype is explained by a postzygotic mutation with somatic mosaicism which was labeled as type 1 manifestation of segmental forms in autosomal skin disorders. A patient with classical type 1 segmental Darier disease is presented. On the other hand, only 3 patients with Darier disease showing a segmental manifestation in combination with a diffuse distribution have so far been observed. These cases correspond to the recently described type 2 manifestation of segmental forms of autosomal dominant disorders. We describe a fourth patient with type 2 segmental Darier disease. The genetic explanation of such a phenotype is possible with the assumption that a germline mutation for the disease exists but, in addition, a postzygotic mutation is needed resulting in loss of heterozygosity. Hence, in a circumscribed region a homozygous or hemizygous state of the mutation is apparent which can explain the enhanced severity of the segmental manifestation.

Adult↗
PubMed2000

Renbök phenomenon in alopecia areata.

We present a second case of alopecia areata sparing a congenital nevus of the eyebrow. This inverse counterpart of perinevoid alopecia is discussed and placed in context to the recently described Renbök phenomenon. According to the present definition of a nevus as a genetic mosaic, a genetically determined resistance to alopecia areata is suggested in our case.

Adolescent↗
PubMed1999

Segmental forms of autosomal dominant skin disorders: the puzzle of mosaicism.

Autosomal dominant inherited disorders of the skin sometimes present as a segmental phenotype. In recent years molecular studies have demonstrated that genetic mosaicism leads to such a clinical manifestation. In general the skin outside the segmental disorder is normal. This rather common variant of segmental manifestation has been termed type 1. Recently, Happle delineated a second type of segmental manifestation of autosomal dominant genodermatosis. This variant is characterized by a more diffuse clinical presentation of the disease, and a very marked linear pattern can be recognized. An explanation of this phenotype is a germline mutation of the gene manifests after a postzygotic mutation leading to double inactivation of the gene. The severe linear manifestation then reflects a doubling of the genetic burden. We present a number of clinical cases to demonstrate this phenomenon, and we present a case of the segmental Naegeli-Franceschetti-Jadassohn syndrome born to a mother with the diffuse manifestation of the disorder.

Adult↗
PubMed1999

[The diabetic foot--the view of the dermatologist].

Skin changes in the diabetic foot may indicate the risk of threatening amputation. In most diabetics necessitating leg amputation, a small skin defect played a key role. Infected skin ulcers and ingrown nails with concomitant infection are important risk factors for amputation. Regular skin care with a moisturising agent is able to reduce the risk of skin defects in a significant proportion. Amputation could be avoided in half of the cases, if correct diagnosis and adequate treatment had been made.

Amputation, Surgical↗
PubMed1999

[Androgenetic alopecia, hirsutism and hypertrichosis].

Having too much hair on the face or the body and not enough on the scalp respectively, is generally not a mirror of a life-threatening disease. However, the emotional impact of such cosmetic problems may be remarkable in the individual case. Currently rational treatment options are becoming increasingly available to correct such hair problems. This review highlights the new therapeutic achievements in the treatment of both androgenetic alopecia and hirsutism. Oral treatment of male patterned hair loss with finasteride in men is emphasized, and the use of antiandrogens in women is discussed. In addition, the mode of action and clinical results of topical minoxidil treatment find mention. The second part of the review deals with hirsutism and hypertrichosis. The diagnostic steps and investigations are briefly reviewed, and the advances in laser treatment of hirsutism and hypertrichosis are presented.

Adult↗