Immune system disturbances in Clouston syndrome.

BACKGROUND: Clouston syndrome belongs to the family of ectodermal dysplasias. So far, a defective immune response has not been reported in Clouston syndrome. We report, for the first time, immunological particularities of a large multigenerational Polish family with Clouston syndrome. METHODS: Five members of the same family with Clouston syndrome, aged 6-76 years, and 20 healthy volunteers, aged 19-73 years, were enrolled in the study. In all participants, the ability of neutrophils to phagocytize opsonized Escherichia coli was assessed. Granulocyte oxidative burst was determined quantitatively, and an isolation of peripheral blood mononuclear cells and the detection of lymphocyte subsets were performed. All patients with Clouston syndrome underwent microscopic assessment of hair shafts, x-rays of the skull and hand bones, extra- and intraoral examination, and panoramic x-rays. RESULTS: Compared to the controls, all patients with Clouston syndrome presented with significantly reduced phagocytic activities of granulocytes and monocytes (P < 0.05). The percentages of granulocytes and monocytes being positive for oxidative burst were also significantly reduced in all patients with Clouston syndrome (P < 0.05). No disturbances in the percentages and absolute counts of T CD3+, T CD3+/CD4+, T CD3+/CD8+, natural killer, and B CD19+ cells were found. CONCLUSION: Although this study expands knowledge about Clouston syndrome, it also raises many questions. The results provide evidence of significantly reduced phagocytic activity and oxidative bursts of cells playing crucial roles in a nonspecific immune response. Further studies are required to understand the underlying mechanism of the hereby described abnormalities.

Stasis papillomatosis with cardiac complications and vein insufficiency.

We report the case of a 73-year-old man with massive swelling of the lower extremities, with a chronic and rather uncommon form of stasis dermatitis - stasis papillomatosis. The patient was also diagnosed with severe heart failure, including dilated cardiomyopathy, hypothyroidism that required a substantial dose of exogenous tyrosine, microcytic and megaloblastic anemia, iron deficiency, and type 2 diabetes. The cause of stasis dermatitis lesions is not completely understood. It may be caused by the allergic reaction to some epidermal protein antigen formation or chronic damage to the dermal-epidermal barrier that makes the skin more sensitive to irritants or trauma. It has, however, been suggested that the term stasis dermatitis should be used to refer only to cases caused by chronic venous insufficiency, which belongs to a group of lifestyle diseases and affects both women and men more and more frequently.

High frequency ultrasonography of the skin and its role as an auxillary tool in diagnosis of benign and malignant cutaneous tumors--a comparison of two clinical cases.

The number of dermatologic entities that can be studied by ultrasound examination (US) of the skin is increasing. Conventional US and high frequency US (HFUS) are considered useful additional tools in improving the diagnosis and management of common benign and malignant skin tumors. US may help in positive and differential diagnosis of primary melanocytic neoplasms and of locoregional spread in melanoma patients. US preoperative evaluation of primary melanoma thickness correlates with histologically estimated melanoma thickness, and can help determine surgical margins and indications for sentinel lymph node biopsy. It is also useful during follow-up after surgical treatment for early detection of recurrence or metastases. In this case report, we present two cases of skin lesions clinically suspicious for malignancy. The first lesion was a round nodule 3 mm in diameter, resembling a blue nevus. In HFUS it was well delimited, hypoechoic, and well vascularized. The second lesion presented as an elevated, well-circumscribed nodule, 5-6 mm in diameter, inhomogeneous in color. HFUS depicted a poorly delimited, irregular, hypoechoic lesion crossing the dermoepidermal junction. At the first exam it was not vascularized, but 6 months later a number of vascular flow signals within the lesion were found. In histopathological examination the lesions were finally diagnosed as, respectively: benign cavernous hemangioma and melanoma. In both presented cases HFUS proved to be useful in a differential diagnosis of suspicious skin lesions. Noninvasive and easy to perform, HFUS is a valuable diagnostic method in dermatology.

Ultrasound findings in cutaneous sarcoidosis.

The diagnosis of cutaneous sarcoidosis relies mainly on the patient's history, presence of characteristic skin lesions and histological examination that shows a granulomatous, non-necrotizing dermal infiltration. The aim of the study was to assess the ultrasonographic features of cutaneous lesions of sarcoidosis before and after treatment. A 38-year-old woman with systemic sarcoidosis and specific cutaneous lesions was treated with systemic steroids followed by hydroxychloroquine. Ultrasonographic examination of the cutaneous sarcoidosis lesions was performed with a Philips iU 22 and Siemens Acuson S 2000 device, with the use of linear 15 MHz and 17 MHz transducers. Histological examination of skin lesions showed characteristic, naked, non-necrotizing granulomas in the upper dermis. Ultrasound examination revealed well-demarcated, hypoechogenic changes. Power-Doppler scan revealed increased vascularity within the lesions and the surrounding tissue. Clinical improvement of the skin lesions was confirmed by ultrasound examination, which showed a decrease in their size and normalization of dermal echogenicity and vascularity. Ultrasound examination can show cutaneous sarcoidosis lesions and their regression after appropriate treatment.

Hepato-splenic and lipid profile abnormalities--do they exist in children affected with vitiligo?

Autoimmune disturbances and metabolic abnormalities observed in vitiligo, a disease of still unclear etiology, may provide evidence on the systemic nature of the disease. The aim of the study was to assess functional and morphological parameters of the liver and spleen, as well as the lipid profile in vitiligo-affected children, in order to ascertain whether any metabolic abnormalities or structural changes in these organs accompanied the course of vitiligo. The study included 34 patients with vitiligo hospitalized at the Department of Dermatology at the Medical University of Lublin and a control group of 35 healthy individuals, aged 7-15 years. Children with the active phase of vitiligo and at least 6 month history of vitiligo lesions were studied. Ultrasound examination of the liver and spleen enabled assessment of the size and parenchyma of the organs. Liver and spleen functions were assessed by means of the following additional examinations: blood test, transaminases, protein electrophoresis, lipid profile, autoantibodies, and HCV antibodies. The size of the liver was not significantly different in the vitiligo and control groups. The ultrasonographic pictures of the spleen revealed no abnormalities in organ size and structure. The concentration of HDL-cholesterol was significantly lower, whereas the concentration of LDL-cholesterol was significantly higher in patients with vitiligo than in healthy controls. The value of the LDL/HDL ratio was significantly higher in vitiligo patients. The results of our study indicate lipid disturbances in vitiligo-affected children. Since no structural and functional abnormalities in the liver and spleen were found, it seems likely that lipid disturbances in vitiligo may result from disturbed metabolic processes in the adipose tissue as well as from oxidative stress.

Trichophyton mentagrophytes-associated Majocchi's granuloma treated with cryotherapy.

We here report the case of a woman with dermatophytosis of the thighs due to Trichophyton mentagrophytes where an unusual clinical picture posed considerable diagnostic and therapeutic problems. She presented numerous skin lesions located on the dorsolateral face of the left thigh and the medial surface of the right calf. The initial lesions consisted of small itchy pustules that evolved to exfoliation after scratching. Results of histopathologic examination ofa skin biopsy were consistent with dermatophytosis, although the negativity of PAS staining did not allow confirmation of this diagnosis. Direct microscopic examination with 10% KOH was negative; however, skin cultures on BioMerieux media revealed Tr. Mentagrophytes. Following the diagnosis of Trichophyton infection, the patient was treated with a combination of isoconazole nitrate and difluocortolone valerate. After therapy, both direct microscopic mycologic examination and culture on BioMerieux medium were negative; however, the lesions persisted, assuming a completely different aspect. Cryotherapy with liquid nitrogen was started. This led to a spectacular improvement: the surface of the skin became almost normal, merely showing slight discoloration. An unusual clinical presentation and non-responsiveness to treatment should prompt revision of the primary diagnosis. A negative result of direct microscopy should not exclude the diagnosis of dermatophytosis. Cryotherapy should be considered in cases that do not respond to conventional antifungal medication.

IFAP syndrome with severe cutaneous, neurologic and skeletal manifestations due to a novel MBTPS2 mutation in a Polish patient.

BACKGROUND: Ichthyosis Follicularis, Atrichia and Photophobia (IFAP) syndrome is a rare genodermatosis due to mutations of the MBTPS2 gene. To date fewer than 40 cases have been described in the literature. OBJECTIVES: To present the first case of IFAP diagnosed in Poland due to a novel mutation of MBTPS2, and to review the relevant literature on this rare genodermatosis. MATERIALS & METHODS: A 16-year-old male presented with typical clinical features of IFAP, along with psoriasiform skin plaques, nail dystrophy, facial dysmorphy, mental retardation, severe skeletal abnormalities and chorea-like movements. DNA analysis was performed in the patient and his clinically unaffected mother, maternal grandmother and sisters. RESULTS: A novel missense mutation p.Cys334Tyr (c.1001G>A) was found in exon 8 of the MBTPS2 gene. This mutation was also found in his clinically unaffected mother and maternal grandmother, but not his healthy sisters. CONCLUSIONS: This patient with IFAP, the first described from Poland, is original by virtue of its extensive skeletal, cutaneous and neurologic manifestations and the novel missense mutation of the MBPTS2 gene. The identification of a novel mutation further expands the known MBPTS2 molecular repertoire and the spectrum of associated clinical findings.

Cutaneous complications of improper leech application.

INTRODUCTION: The medical leech (Hirudo medicinalis) has been used throughout the centuries and continues to be used today, mainly in reconstructive surgery and microsurgery. Easy access to these animals may entail an improper use of this therapeutic method by patients as a form of self-treatment. CASE REPORT: A man who presented with skin erythema and oedema due to the application of a medical leech. DISCUSSION: Infection is considered the most common complication of hirudotherapy, even though bacteriological examination of leech applied by the patient showed neither bacterial nor parasitic infection. The skin lesions were probably of allergic origin; whether this reaction was due to substances released from the leech or as a consequence of reusing the same leech, remains to be determined.

Therapeutic hotline: Primary cutaneous CD4 + small/medium-sized pleomorphic T cell lymphoma coexisting with myelodysplastic syndrome transforming into chronic myelomonocytic leukemia successfully treated with cyclophosphamide.

Cutaneous T cell lymphomas other than mycosis fungoides, Sezary syndrome, and primary cutaneous CD30+ lymphoproliferations constitute less than 10% of all cutaneous T cell lymphomas. Primary cutaneous small/medium CD4+ T cell lymphoma is a member of this third group of cutaneous lymphomas, separated out as provisional entity in the World Health Organization classification - European Organization for Research and Treatment of Cancer (WHO-EORTC) classification. It still awaits development of more precise diagnostic criteria and optimal therapy. We report a case of primary cutaneous CD4 + small/medium-sized pleomorphic T cell lymphoma accompanied with myelodysplastic syndrome successfully treated with cyclophosphamide. It seems that cyclophosphamide as a single-agent chemotherapy in patients with disseminated lesions might be safe and quite effective therapeutic option.

Psoriasis vulgaris and digestive system disorders: is there a linkage?

Psoriasis is well-known immune-mediated skin disease often associated with co-morbidities, including dyslipidaemia and obesity. Few reports imply that the disease might be also related to pathology of mucosal surfaces, especially that of the digestive system. The authors present a case of psoriasis and concurrent digestive system abnormalities, and review the literature regarding the topic. A 40-year-old man suffered from an exacerbation of exudative psoriasis for about 6 months. Topical antipsoriatics proved ineffective and the disease gradually progressed to a severe disseminated form. Subsequent detailed examinations revealed persistent gastroduodenitis due to H. pylori infection, pancreatic dysfunction and fatty change of the liver, although the patient denied any gastrointestinal symptoms. As a result appropriate treatment of the diagnosed digestive system disorders was added to topical antipsoriatic therapy. Within 2 weeks of treatment clinical symptoms and laboratory signs showed a marked trend to normalisation. The presented medical history seems to suggest that there may be some kind of interplay between psoriasis and digestive system disorders.

Cervical lymphadenopathy in children--incidence and diagnostic management.

OBJECTIVE: Palpable lymph nodes are common due to the reactive hyperplasia of lymphatic tissue mainly connected with local inflammatory process. Differential diagnosis of persistent nodular change on the neck is different in children, due to higher incidence of congenital abnormalities and infectious diseases and relative rarity of malignancies in that age group. The aim of our study was to analyse the most common causes of childhood cervical lymphadenopathy and determine of management guidelines on the basis of clinical examination and ultrasonographic evaluation. MATERIAL AND METHODS: The research covered 87 children with cervical lymphadenopathy. Age, gender and accompanying diseases of the patients were assessed. All the patients were diagnosed radiologically on the basis of ultrasonographic evaluation. RESULTS: Reactive inflammatory changes of bacterial origin were observed in 50 children (57.5%). Fever was the most common general symptom accompanying lymphadenopathy and was observed in 21 cases (24.1%). The ultrasonographic evaluation revealed oval-shaped lymph nodes with the domination of long axis in 78 patients (89.66%). The proper width of hilus and their proper vascularization were observed in 75 children (86.2%). Some additional clinical and laboratory tests were needed in the patients with abnormal sonographic image. CONCLUSIONS: Ultrasonographic imaging is extremely helpful in diagnostics, differentiation and following the treatment of childhood lymphadenopathy. Failure of regression after 4-6 weeks might be an indication for a diagnostic biopsy.

Cutaneous manifestation of giardiasis - case report.

Giardia intestinalis is a protozoan parasiting the gastrointestinal tract of vertebrate hosts widely distributed throughout the world. Patients with giardiasis are usually asymptomatic but the presence of the parasite may lead to a variety of clinical manifestations, including skin lesions. In this report we present a case of a 31-year-old female patient with skin lesions of granuloma annulare type confirmed by a skin biopsy, who was diagnosed with giardiasis. The clearance of the skin lesions after antiparasite treatment seems to support correlation between dermatological symptoms and infection with Giardia intestinalis .

Sonographic assessment of the liver in children with psoriasis.

PURPOSE: The aim of this study was to compare the size and echotexture of the liver in psoriatic and healthy children. METHODS: In 70 psoriatic and 43 healthy children, longitudinal sonograms of the liver were obtained along standardized section planes defined by the anterior axillary line, medioclavicular line, and midline. The livers' size and echotexture were examined and compared between the study groups. RESULTS: The measurements of the liver along the 3 section planes were not significantly different between psoriatic and healthy children. Parenchymal liver echogenicity in psoriatic children was neither decreased nor increased. CONCLUSIONS: No abnormality in size or echotexture of the liver was found in the psoriatic children.

High frequency ultrasound diagnostics of right lower quadrant abdominal pain in children.

In our study we tried to assess the usefulness of high frequency ultrasound examinations in the diagnostics of right lower quadrant abdominal pain, focusing on the differential diagnosis of appendicitis. Ultrasound examinations were performed on 152 patients aged 1 to 19 with abdominal pain. All the children underwent standard abdominal ultrasound examination with B mode of abdominal parenchymal organs as well as the evaluation of the intestines with the linear transducer of changeable frequency with the possibility of creating sector format. The tissue harmoning imaging (THI), Power and Colour Doppler modes were also applied in the examinations. As a result, 21 (13.8%) of 152 examined patients did not demonstrate any abnormalities in ultrasound examination. In the group the appendix was not visible. In the other 131 (86.2%) patients we observed a number of pathologies such as following: in 96 (73.3%) patients visible appendix, in 8 (6.1%) enlarged mesenteric lymph nodes, in 6 (4.6%) pathological broadening of the distal ileum wall, in 6 (3.2%) pathological broadening of the caecum wall and others. All these symptoms might be treated as indirect symptoms of appendicitis. In conclusion, we would like to state that high frequency ultrasound examination is very useful in the diagnostics of appendicitis.

Multiple myxoid cysts of both hands in a cashier--a case report.

We describe an unusual case of mucous cysts in 3 fingers of both hands in a 52-year old woman, working as a cashier. The cysts were localized over the joints, between distal interphalangeal joint and the proximal nail fold. It is possible that the job of the patient (i. e. counting money with both hands, repeated straightening and bending of distal phalanxes in the palms) could have influenced the development of numerous lesions. Radiological examination revealed no symptoms of osteopathic changes, only the growth of soft tissue, without any abnormalities in the bone structure. Contact tests showed no allergy to nickel. The cryotherapy and removing mucus form the DMCs caused complete recovery of our patient.

The application of ultrasound contrast, 3D imaging and tissue harmonic imaging in the differential diagnosis of lymph nodes enlargement in children.

The application of Power Doppler mode examination introduced the assessment of vascularisation and measurement of blood flow parameters in lymph node's vessels as a differentiating criterion of benign and malignant lymphadenopathy. However, those criteria appeared insufficient in evaluation of the malignancy grade of enlarged lymph nodes, especially in the cases of lymph nodes with invisible or scantly visible vascularisation in Power Doppler mode. Introducing contrast media in ultrasonographic examinations enabling intensification of the Doppler signal even by 20 dB creates the hope of increasing diagnostic efficacy of ultrasonography in evaluation of vascularisation in lymph nodes enlargement. The purpose of the study was to define the usefulness of ultrasonographic contrast media (Levovist), 3D presentation and harmonic imaging in differential diagnosis of lymph nodes enlargement in children. 32 children with cervical lymph nodes enlargement underwent examination with ultrasonography. In the examinations, Levovist by Schering was used in concentration 300, the amount depending on patient's body mass. The analysis of results obtained in the study revealed that application of contrast media enables better visualisation of lymph node vascularisation. Localisation of the vessels which were not shown in conventional Doppler mode enables visualisation of the vessel architecture in the lymph node and better defining of vascularisation pattern. Application of the new methods of THI and 3D imaging and contrast media in Power Doppler examinations increases the diagnostic efficacy of ultrasonography in differentiating lymph nodes alternations.

The liver and its ultrasonographic picture in children suffering from vitiligo.

The size and the structure of the liver in 38 children with vitiligo and 43 healthy children suffering from a mild form of pityriasis capitis were measured in an ultrasonographic examination and then compared. In the examined group there were found single cases beyond the norm. No changes in the structure of the liver parenchyma were stated in any of the vitiligo cases. For the liver measured in L1 there were stated 94.7% cases of vitiligo within the range from 2.5 to 97.5 percentile values in the control group. For the liver measured in L2--92.5% cases from 2.5 to 97.5 percentile values in the control group and for the liver measured in L3--92.1% cases of vitiligo were within the range 2.5 do 97.5 percentile values in the control group.

Radiological picture of "unaffected" proximal femoral growth plate in children with unilateral Perthes disease.

Background. A changed radiological picture has Bern observed in the initial x-rays of the unaffected proximal femoral growth plate in children with unilateral Perthes disease. The present study seeks to determine whether a thicker, horizontal growth plate in an etiological factor in Perthes disease.
Material and methods. The research involved 173 children diagnosed with unilateral Perthes diseas, and a control group of 174 children aged 3-10. Alsberg's angle was measured to detect horizontal growth plate, while x-ray images were examined if the growth plate was thickened.
Results. In 15 of the children with unilateral Perthes disease, the unaffected growth plate was horizontal (Alsberg's anle 840-900); in 8 children, the growth plate was thicker and radiolucent, mostly on its lateral side. No clinical symptoms accompanied these changes in the unaffected hip joint in the children we studied. In the control group, horizontal growth plate was noticed in the case of child (Alsberg's angle 840).
Conclusions. Transient radiographic abnormalities of proximal femoral growth plate are risk factors for increased incidence of Perthes disease in children above 3 years of age. The reason for these transient abnormalities of femoral growth plates is probably temporary disturbance of the blood supply and mechanical strain before manifestation of the symptoms of Perthes disease.