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.

Tuberous sclerosis complex: report of two intrafamilial cases, both in mother and daughter.

Tuberous sclerosis complex (TSC) is a multisystem syndrome characterized by neurological symptoms and tumors in multiple organs including kidney, brain, skin, eyes, heart and lung. Kidney and brain are the two most frequently affected organs in TSC. TSC is an autosomal disorder with extensive clinical variability. We described TSC in a family at a mother and her daughter. We emphasized the importance of Computed Tomography in the discovery of some asymptomatic organic involvement as bilateral renal angiolipoma in the mother.

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.

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.

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.

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.

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.

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.