Dowling-Degos disease.

Dowling-Degos disease (DDD) is a rare autosomal dominant inherited pigmentary disorder of the flexures with a reticulate aspect and with presence of prominent comedone-like lesions and pitted scars. The diagnosis includes acanthosis nigricans as well as other reticulate pigmentary disorders classified into: dyschromatrosis symmetrica hereditaria (DSH), dyschromatosis universalis hereditaria (DUH) and reticulate acropigmentation of Kitamura (RAPK). We present a 35-year-old woman, which presented with flexural hyperpigmentation considerate as acanthosis nigricans. At a close clinical and histopathological examination, we obtained sure data for Dowling-Degos disease, with a possible familial history of this disease in her son. We review the literature data concerning this disease.

Subungual exostosis of the big toe.

The subungual exostosis is a benign bone tumor on the distal phalanx of a digit, beneath or adjacent to the nail, often bringing in discussion many differential diagnosis. We present a 14-year-old boy with a cutaneous nodular lesion, painful to the easy touch on the latero-internal half of the nail of right big toe with extension in the cutaneous part of this. He suffered many treatments, especially cauterization, but with recurrence. In the present, the radiological findings of the affected finger and the histopathological ones from the fragment excised confirmed the diagnosis of subungual exostosis. The local excision of the entire region with the removal of the cartilaginous cap has been followed by a silent period without recurrences of almost two years when he as revised.

Spitz nevus with an uncertain malignant potential.

We present the case of 10-year-old girl who have had from birth a plane tumor, of tan color, 3-4 mm of diameter, localized on the face on the cutaneous part of the superior lip. This tumor has been stabile until 8-year-old. Then, after repeated sunlight exposures, the lesion has become more stark, hemispheric in shape, has increased in size becoming about 5-6 mm, with irregular borders, and after an accidental traumatism it began to bleed. We have performed the electroexcision of the lesion for diagnostic and therapeutic purpose. The histopathologic exam distinguished typical images of Spitz nevus on some of the histological sections but also of melanocytary tumor with uncertain malignant potential on the others where atypical mitoses localized in the deeper component of the tumor are being noticed. The immunohistochemical assessment of the tumoral cells showed positivity for the melanocytic markers HMB45 and Melan A, within junctional intraepidermic nevic cells and in the nevic cells from superficial dermis, and also for CD44 protein (belonging to the adhesion molecules family). However, cyclin D1 was positive in rare nevic cells, and the proliferation rate of the tumor was small, with a proliferation index for Ki67 lesser than 5%. The correlation between histopathological and immunohistochemical data conducive to final diagnosis of Spitz nevus with uncertain malignant potential. The clinical evolution confirmed the histopathological diagnosis by the fact that the patient did not presented clinical signs of local recurrences or metastasis at three years after the excision of the tumor.

Peutz-Jeghers syndrome: case report and literature review.

Periorificial lentiginosis, also knew as Peutz-Jeghers Syndrome (PJS), is an autosomally dominant inherited condition determined by a mutation localized at 19p13.3 responsible for mucocutaneous pigmentation and gastrointestinal polyps. Skin- and mucosal pigmentation may be present at birth but usually occur in early childhood, and occasionally may develop later. Round, oval or irregular patches of brown or almost black pigmentation 1 to 5 mm diameter, irregularly distributed over the oral mucosa, gums, hard palate and lips (especially the lower) are observed. The pigmented maculae on the face, encountered especially around the nose and mouth are smaller. Polyps may appear in the stomach, small bowel or colon, with hamartomatous aspects on histology. Acute upper gastrointestinal bleeding and chronic fecal blood loss may appear during the course of disease. There is a higher risk of intestinal and extraintestinal cancers in those patients. We present the case of an 18-year-old young girl accusing since the age of 3 slight intermittent episodes of bloating and abdominal pain without a particular localization, as well as mild iron-deficiency anemia. Physical examination revealed pigmented lesions suggesting PSJ on the palatine and jugal mucosa while endoscopy found a lot of polyps in stomach and a few, isolated in the colon, all having the same hamartomatous pattern. The presence in early infancy of small, well-demarcated and dark-brown to blue-black lentigines on the lips, buccal mucosa and perioral skin, should alert the clinician to PJS.

Type Ib indolent mastocytosis with systemic involvement: cutaneous mastocytosis and gastrointestinal involvement at young girl.

A 21-year-old young girl presents with intense abdominal pain, nausea, diarrhea in the context of a cutaneous eruption formed by erythematous and papulous elements with brown violet aspect, very pruriginous, occasioned by the preparation of some fishmeal. Similar eruption debuted from childhood from the age of 4 year became rare with age. Since 3 years, the patient presents more intense digestive manifestation. The therapy with H2 antagonist (loratadine) and a mast cell stabilizer is beneficial over the digestive symptoms and in the same time cancel the pruritus and the erythema of the cutaneous lesions that remain hyperpigmented. The histopathological examination of a cutaneous lesion confirms the diagnosis of mastocytosis and the endoscopic examination discovers a duodenal ulcer and an erosive gastritis. The systemic mastocytosis is a rare disease, often associated with an urticaria pigmentosa, with difficult diagnosis in his absence. That's why, in patients with macular or nodular pigmented cutaneous lesions appeared in infancy and early childhood and which urticate in a characteristic manner when the skin is firmly rubbed, a cutaneous biopsy is necessary.

Kaposi's sarcoma associated with AIDS.

In 1872, Moritz Kaposi, first described "Idiopathisches multiples Pigmentsarkom der Haut", which has become known as Kaposi sarcoma (KS). In the present KS is considerate an opportunistic neoplasm rather than a genuine cancer. It is a disease with clinical aspects extremely different, associate with some immunological deficits. The discovering in 1994 of a new type of human herpes virus called human herpes virus type 8 (HHV8) in the KS lesions sustains also a viral etiology. Four forms of Kaposi's sarcoma are recognized: classical, endemic (associated with AIDS), epidemic and iatrogenic (usually after transplant). All these forms have the same histopathologic aspects and are associated with HHV. However, these differ in prognosis and treatment. The authors present a KS case associated with AIDS occurring at a patient in the childhood. The particularities of the case are the presence of only two cutaneous lesions, from which one giant tumor, and the other nodular in aspect and the appearance of an infection HIV in the childhood with involvement of others risk factors except homosexuality. It is important, on one side the importance of the histopathologic exam of an angiomatous tumor for the establishing the diagnosis of KS even when is solitaire and appear in the child, and the other side the absolute necessity to search an eventual concomitant infection with HIV in the presence of a KS.

Erythrokeratodermia variabilis - variant with circumscribed variable erythema and periorificial fixed Bazex Dupré erythema.

Erythrokeratodermia represents a group of rare genetic diseases characterized through disorders of keratinization. Clinically, they are presenting themselves with erythematous and hyperkeratosic lesions that can be persistent or variable as to their aspect and localization. They were classified in erythrokeratodermia variabilis (EKV) and erythrokeratodermia symmetric progressive (EKSP). We are presenting the case of a 9-years-old child which presents from birth facial and perioral erythema; erythematous and hyperkeratosic lesions with circinate character, extremely variable, localized especially on the anterior thorax (on the chest and in the axillar and inguinal folds). The neonatal debut, the clinical and histological aspect are suggestive elements for the EKV. In addition, the child has a plan frontal angioma and a congenital horizontal nistagmus. We realized a review of a literature data being different clinical variants of presentation of EKV and the eventual possible associations. It is considered the fact that the clinical presentation in the presented case corresponds to the variant of EKV with variable circinate erythema described by Bazex and Dupré. The case is also particular through the association of a plan frontal angioma, particularly of a congenital horizontal nistagmus, associations that we could not find in the literature.

Portal cavernomatous transformation leading to variceal hemorrhage in Sturge-Webber syndrome. A rare, but possible association.

UNLABELLED: Sturge-Weber syndrome is a rare disorder consisting of a port-wine nevus in the distribution of the ophthalmic branch of the trigeminal nerve and central nervous system malformations. Facial cutaneous vascular malformation, seizures, and glaucoma are among the most common symptoms and signs. The syndrome results from malformation of the cerebral vasculature located within the pia mater, most commonly over the occipital region. These malformations led to venous hypertension and subsequent hypoperfusion on the underlying cortex, causing chronic cerebral ischemia, atrophy, calcification and neurological deterioration. We describe 18-years-old young girl hospitalized for upper digestive hemorrhage that revealed a cavernomatous transformation of portal vein. At the same time, she presents extensive congenital, bilateral port wine stains on the face, epilepsy and glaucoma of the right eye. Computer tomography showed intracranial vascular abnormalities with calcifications, particularly in the right occipital lobe. The clinical presentation and imagistic assessment confirmed the diagnosis of Sturge-Weber syndrome associated with upper non-cirrhotic portal hypertension generated by a malformation of portal vein. CONCLUSIONS: Upper digestive hemorrhage is a quite rare eventuality in the Sturge-Webber syndrome. Moreover, portal tract malformations with cavernomatous transformation are exceptionally cited in the literature. Despite this rare association, abdominal investigation, as well as computed cranial tomography should be performed in all cases of children that present a facial cutaneous vascular malformation.

Bone abnormalities occurring in the follow-up of the patients with neurofibromatosis type 1.

Neurofibromatosis type 1 (NF1), also called von Recklinghausen disease or peripheral neurofibromatosis, is a common autosomal dominant disorder characterized by multiple neurofibromas, "café au lait" spots and Lisch nodules of the iris with a variable clinical expression. Osseous anomalies appeared in the patients with NF1 including dysplasia, scoliosis and pseudoarthrosis. We propose a research of the osseous involvement at 11 patients, seven female and four male with ages from 9 to 60 at which the cutaneous aspect has the complete form, hyperpigmented spots and cutaneous neurofibromas and only more than six "café au lait" spots. All the patients suffered radiological exams, CT- and MRI-scan. The results were different from case to case from the extreme severe deformations, especially at the children, to clinical unapparent osseous involvement, incidental found or with occasion of our investigation. CONCLUSIONS. The patients with NF1 has osseous abnormalities specific of the disease, like dysplasia, scoliosis, pseudoarthrosis, often gentle but sometimes extremely severe. The most severe osseous involvement are presented in the cases when these development early in the childhood. Other times the osseous abnormalities are clinical asymptomatic, their finding been clinical incidental. We want to have a separate mention for the maxillary and mandible involvement, which according to our information is not a rare form.

Lymphangioma of the oral cavity.

UNLABELLED: Lymphangiomas are uncommon congenital hamartomas of the lymphatic system, usually diagnosed in infancy and early childhood. Commonly located at head and neck, they are rarely situated in the oral cavity. Preferred site of oral involvement is the tongue. In the absence of proper therapy, lymphangiomas of the tongue are extremely recurrent, leading to serious complications such as hemorrhage or obstruction of the upper respiratory airways. The authors present the case of eleven years old boy with pseudo-vesicles, and smooth, glossy lesions on the tongue, and a red prominent pulsative sublingual mass located at the base of the tongue. Both the macroscopic structure and the histological aspect sustain the diagnosis of lymphangioma. CT established that is a profound lymphangioma with a narrow communication with the superficial planes. CONCLUSIONS: Though rarely met in the oral cavity, lymphangiomas are an eventuality to take into consideration by the clinician. Early recognition is of utmost importance to initiation of proper treatment, and avoiding serious complication.

Atypical debut manifestations in juvenile idiopathic arthritis.

Considering that destructive articular lesions may occur in the first stages of the illness, it is difficult but necessary to establish a diagnosis of Juvenile Idiopathic Arthritis (JIA) in due time. The authors present the case of a 9-year-old girl admitted to the Pediatrics Clinic of the "Filantropia" Municipal Hospital in Craiova, Romania, on November 26, 2002, for bilateral pain in the tarsometatarsal and carpometatarsal joints that had begun approximately four weeks before. After the clinical examination and paraclinical investigations, a diagnosis of unspecified arthritis is established and the adequate treatment is begun. Two months later, the patient returns to the clinic with bilateral knee pain and swelling. The results of laboratory tests indicate the persistence of anemia and of the inflammatory syndrome. The diagnosis of JIA is established. The evolution of the patient is unfavorable, both from a clinical point of view (a large number of articulations affected, a persistent rash, hepatomegaly) and a paraclinical one (increased acute phase reactants and radiological changes occurring two years after the onset of the illness).

The arthroscopy-histological criterion link in the result's estimation of the endoscopic treatment by resection of the knee's meniscus lesions.

The authors present the results of a statistical, clinical, imaging X-ray and optical microscopic studies of some lesions of knee's meniscus, the arthroscopy allowing this structure's biopsy during the endoscopic procedures of resection. These histological criterions are very important estimation factors of long-term results of these techniques, often the microstructure looking different to the appearing normal macroscopic aspect.

Supratentorial pilocytic astrocytoma in children.

Brain tumors hold second place in tumoral pediatric pathology and have a complex etiopathogeny. The authors describe the case of a child aged 2 years and 4 months with increased intracranial pressure, symptomatology accompanied by rapid deterioration of general condition. Head CT imaging examination showed intra-nevraxial replacement space process, supratentorial. Histopathological examination revealed the typical grade I pilocytic astrocytoma. Time of diagnosis and surgical intervention is essential for further evolution and prognosis.

Plaque-type morphea in children.

We present the case of a girl, aged 8-year-old, with a history of acrocyanosis and repeated respiratory infections with beta-hemolytic streptococcus, which was consulted for the presence of skin lesions in the right buttock area. Clinical examination showed, in the right buttock region, an oval plaque with a diameter about 12 cm, hard, well defined, with irregular outline. The biopsy was performed and it revealed typical aspects of plaque-type morphea. The epidermis was mostly atrophic, with areas of ridge reduction; an important proliferation of collagen fibers within superficial and deep dermis and an abundant lymphocytic inflammatory infiltrate throughout the dermal thickness reaching hypodermic level and infiltrating it. General treatment consisted of antibiotics; vitamin E; local treatment with topical cortisone; analogues of vitamin D3 to which we associated topical adjuvants with repairing and healing role applied to the biopsied area. Evolution was favorable after three months of treatment, with obvious improvement of skin lesions; skin became more elastic and the purple red contour ring disappeared.

Clinical considerations concerning progressive diabetic renal diseases. Severe complications of early onset diabetes mellitus.

The main question of diabetic nephropathy in early onset diabetes mellitus consists of the possibility to advance to chronic renal failure at an early age, a complication having severe consequences in medical, familial and socio-economic life. The authors of this study are purposing to discover risk factors involved in the evolution of diabetic nephropathy (DN) with the aim to act by tertiary and secondary prophylactic measures which will decrease or stop the evolution of final forms of this disease. Our study contains 129 patients with insulino-dependent diabetes mellitus (type 1), which started under twenty years age, screened between 1965-2000. The average age is 21 years and the average age of disease's onset is 12 years. We used Mogensen's classification in order to border the DN. The study refers only to the patent DN, called "OVERT-DN", which represents the fourth and the fifth stages. High arterial blood pressure values were taken into consideration when these are higher than 130/85 Hg mm. The informations were statistically analysed. DN affects 21% from the lot of 129 patients. We noticed differences between males and females from 80 type 1 DM males, 23.7% had DN and from 49 type 1 DM females 16.3% had DN. High arterial blood pressure appeared to 19.3% from all patients and as a secondary effect of DN in 18.6% of the cases; "border-line" essential high arterial blood pressure was found in only one patient. From the 27 patients with clinic DN, 44.4% evoluated to chronic renal failure (CRF) and half of them suffered till final stage of CRF. The frequency of DN was linked with the duration of diabetes. Thus, DN affects 13.8% of patients with 6-10 years of illness; 54.5 of patients with 20 years of illness, and after 25 years of illness - 87.5%. After 23 years of diabetes, it was accounted mortality in 3 of 7 cases, caused by final CRF.