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1.
Cutis marmorata telangiectatica congenita (CMTC) is a rare congenital disorder with persistent cutis marmorata, telengiectasia, and phlebectesia, which may be associated with cutaneaus atrophy and ulceration of the involved skin. We herewith report a full-term newborn female baby with CMTC at birth with ulceration over the extensor aspects of both the knee joints and right elbow joint. CMTC is a benign vascular anomaly representing dilatation of capillaries and veins of dermis and is apparent at birth. The baby had a reticulated bluish purple skin changes all over the body including the face and limb. Although it resembled physiological cutis marmorata, it was strikingly pronounced and definitely was unvarying and permanent. A variety of vascular malformation has been described along with this disorder. Etiology is not very clear and may be multifactorial, teratogens and genes are also been suggested. Prognoses in uncomplicated cases are good.  相似文献   

2.
A case of a very extensive form of the rare Bockenheimer's syndrome (genuine diffuse phlebectasia) in a 45-year-old female patient is presented. The subject presented phlebectasias of the upper right leg, the vulva and the right side of the abdomen. The diagnostic and therapeutic possibilities for cases of patients with Bockenheimer's syndrome are described.  相似文献   

3.
A 71-year-old woman reported a slow progression of multiple bluish dark asymptomatic macules and papules on the pretibial region of both lower legs for over 30 years. At birth a left-sided hypoplasia of the leg including the buttock accompanied by a connatal vascular nevus had been diagnosed. The ipsilateral deep veins of the pelvis and leg had a normal anlage. Histopathological examination revealed multiple blue nevi of the common type. The association of multiple blue nevi and cutis marmorata teleangiectatica congenita with limb hypoplasia has not previously been reported and is discussed in this paper. One could speculate whether these symptoms represent a new syndrome, because by thorough examination the NAME syndrome could be ruled out.  相似文献   

4.
Regional capillary malformation of a lower extremity is associated with the overgrowth of bone or soft tissue in several disorders, most commonly Klippel–Trenaunay syndrome and Parkes Weber syndrome. We have observed a subset of patients with a capillary malformation of the leg, minor growth disturbance, and prominent veins. The objective of the current study is to describe a series of patients with regional capillary malformation of the lower extremity in association with phlebectasia. This is a retrospective series of 17 patients diagnosed with capillary‐venous malformation of the lower extremity. We excluded patients with clinical or radiographic evidence of lymphatic or arteriovenous malformation. Age, presentation, associated features, radiographic findings, and management were documented. In most patients the capillary malformation covered a large area without sharply demarcated borders. Four patients had one or more discrete, well‐defined capillary stains involving less than 5% of the total surface area of the affected lower limb. Prominent veins were most common in the popliteal fossa and on the knee and dorsal foot. Approximately two‐thirds of patients had a leg length discrepancy, with the affected leg being longer (n = 6) or shorter (n = 4); in many the affected leg was also slightly larger (n = 8) or smaller (n = 4) in girth. Radiographic imaging showed dilatation of superficial (n = 16), muscular (n = 9), and deep veins (n = 6). We characterize a subset of patients with regional capillary‐venous malformation of the lower extremity with prominent veins and minor hypotrophy/hypertrophy that differs from Klippel–Trenaunay syndrome (capillary‐lymphatic‐venous malformation) but belongs at the minor end of the spectrum of vascular disorders with overgrowth.  相似文献   

5.
GAPO syndrome     
INTRODUCTION: The GAPO syndrome is a rare but distinct genetic disorder. GAPO is an acronym for the manifestation of Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy. The syndrome was first reported in 1947; to date, 24 cases have been reported. We report the first Tunisian case. OBSERVATION: We studied a 12 year-old boy with GAPO syndrome which was associated with peculiar facial appearance, umbilical hernia, hemangiomatous plaques of the neck, depigmented maculae arranged in a splashed pattern located in the trunk and the right upper limb. He had a pulsated mass in the right mastoid area and a bruit was audible, he had a second flaccid mass of the vertex. These tumefactions correspond to very developed commissure veins. DISCUSSION: In addition to the classical manifestations of the GAPO syndrome, the patients have a strikingly characteristic facial appearance and may also have umbilical hernia, skin redundance and prominent dilatation of scalp veins. Our case had depigmented maculae suggestive of incontinentia pigmenti achromians. This has never been reported previously. The pathogenesis of this syndrome is unknown and inheritance is considered to be autosomal recessive.  相似文献   

6.
Two cases of blue rubber bleb nevus syndrome are being reported because of their rarity. Case one was classical with multiple, soft, painful, tender, bleb- like, bluish nodules and gastro- intestinal tract bleeding. In case 2 typical zosteriform, soft bluish, compressible, tender, painful nodules simulating that of blue rubber bleb nevus syndrome were present on the right thigh since the age of 14 years. He refused biopsy and therefore it was not possible to exclude other segmental vascular naevi.  相似文献   

7.
Stewart-Bluefarb acroangiodermatitis is the occurrence of pseudo-kaposiform changes with an underlying arterio-venous malformation. Parkes-Weber syndrome is a triad of arterio-venous malformation with varicose veins with bony and soft-tissue hypertrophy involving the extremity. A 13 year-old-female presented with ulcerated growth with bleeding episodes on right leg since past four years. A reddish discoloration over right leg was noticed at four years of age which remained unchanged until nine years of age, after which it showed rapid increase in size along with disproportionate increase in length and girth of right lower limb. Examination revealed hyperpigmented soft verrucous plaque over the right lower one-third of leg, along with presence of ulcers and dilated tortuous veins in the right lower leg with thrill and bruit over the right popliteal and inguinal region. A differential diagnosis of verrucous hemangioma and arterio-venous malformation with pseudo-kaposiform change was considered. Skin biopsy showed multiple fenestrated capillaries with perivascular lymphocyte infiltrate suggestive of capillary malformations. X-ray showed osteolytic defect in right tibia. Duplex ultrasound and magnetic resonance imaging of right leg showed multiple fast flowing small and medium sized arterio-venous malformations of small to moderate size. Thus, on the basis of clinical and radiological features, we made a diagnosis of Stewart-Bluefarb type of acroangiodermatitis with Parkes-Weber syndrome. She was managed conservatively with compression stockings.  相似文献   

8.
A female infant presented at 3 months of age with vascular lesions involving the left lower limb and left side of the vulva. At birth, the left leg was thinner than the right, but equal in length. She had macular, reticulate, bluish discolouration covering most of the skin of the involved leg with superimposed cherry-red papules, most dense over the proximal portion. The macular component showed evidence of improvement within the first few months of life. Papular and nodular components over the leg and the vulva progressively increased in size and thickness until the age of 10 months. These elements had the appearance and behaviour typical of haemangioma of infancy. Regression of these lesions started at the age of 15 months. By the age of 6.5 months, the involved leg was no longer thinner than the right, but the left leg and foot had grown longer. Leg length discrepancy peaked at 2.4 cm at the age of 2 years. The most rapid phase of relative growth discrepancy of left and right leg bones was contemporaneous with the growth phase of the haemangioma. Radiological investigations and histopathology have been consistent with haemangioma of infancy. GLUT-1 immunostaining of the lesion was positive.  相似文献   

9.
Fibroadipose vascular anomaly (FAVA) is a rare, complex mesenchymal malformation combining fibrofatty replacement of the affected muscles and slow‐flow vascular malformation. The condition is characterized by localized swelling, severe pain, phlebectasia, and contracture of the affected limb. Treatment paradigms are not well established for this rare, recently recognized condition. We report two cases of FAVA in which treatment with sirolimus produced rapid, dramatic improvement in pain and quality of life.  相似文献   

10.
Background CHILD syndrome, a rare hereditary disorder of keratinization (MIM 308050, 300275), is the acronym proposed by Happle to name a rare entity, characterized by congenital hemidysplasia, icthyosiform nevus and limb defects, ranging from digital hypoplasia to icthyosiform nevus and ipsilateral limb defects, ranging from digital hypoplasia to complete amelia. Patients and methods A 9‐month‐old female infant presented with skin and limb defects involving the right side of her body. Clinical and laboratory evaluation was performed, including DNA sequence analysis of the NSDHL gene. Results Our patient presented with some of the typical clinical characteristics of CHILD syndrome, i.e. two large erythematous plaques with sharp borders, covered with yellow, wax‐like scaling, on the right axilla and on the right groin, dysplastic right hand and alopecia of the right occipital area. The diagnosis was confirmed by DNA screening analysis, that detected a missense mutation c.314C→T;p‐A105V, in the coding region of the NSDHL gene (exon4) of our patient. Conclusions This is the first report of CHILD syndrome ever reported in Greece. We suggest that the diagnosis of the syndrome is important for patient information and genetic counselling.  相似文献   

11.
Klippel-Trenaunay (KT) syndrome is a vascular malformation characterized by a port-wine stain, varicose veins and hypertrophy of the affected limb. Ulceration is considered an uncommon complication of KT syndrome and occurrence of skin cancer has been previously reported only in one case. We observed a case of KT syndrome in a 48-year-old woman who developed a large ulcer and a squamous cell carcinoma on the affected leg.  相似文献   

12.
Abstract: Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome is a rare X‐linked dominant disorder that is characterized by peculiar cutaneous features commonly associated with skeletal and internal organ involvement. Cutaneous verruciform xanthoma is an uncommon cutaneous manifestation of congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome. We present a case presenting with a late onset of a large verruciform xanthoma of the right foot, in addition to the more typical cutaneous features of congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome.  相似文献   

13.
Cutis marmorata telangiectatica congenita (CMTC) is a rare cutaneous vascular disorder that was first described in 1922 by Van Lohuizen (1). The clinical presentation is one of persistent cutis marmorata, phlebectasia, telangiectasia, and areas of ulcerations. The disorder shows slow clinical improvement over time. Previously, CMTC has also been described as congenital generalized phlebectasia (2-7), congenital phlebectasia (8), nevus vascularis reticularis (9), congenital livedo reticularis (10), and livedo telangiectatica (11). The following is a case report.  相似文献   

14.
A 59-year-old woman with a single cuff-like plaque, consisting of multiple skin-coloured to bluish cysts and comedones on her right forearm is reported. The solitary lesion resembled, morphologically and histologically, the Favre–Racoucht syndrome. The above condition is another case of the previously described actinic comedonal plakque, which seems to be a rare entity within the spectrum of disease caused by actinic damage to the skin.  相似文献   

15.
Sweet''s syndrome is a neutrophilic dermatosis with worldwide distribution that has been associated with inflammatory autoimmune diseases, infections, malignancies, drugs, and pregnancy. The disease is idiopathic in up to 50% of patients. A 64-year-old woman, diagnosed with right limb cellulitis (4 days of evolution), was seen at our department, due to persistent cellulitis and progressive appearance of painful nodules and plaques in both shins and the right forearm (2 days of evolution). Taken together, clinical, laboratory and pathological data suggested the diagnosis of Sweet''s syndrome, probably secondary to cellulitis of the right inferior limb. We suggest that cellulitis may be associated with Sweet''s syndrome, a rare association in the literature.  相似文献   

16.
Cutis marmorata telangiectatica congenita (CMTC) is a congenital cutaneous vascular malformation that is diagnosed on the typical clinical findings of persistent cutis marmorata, telangiectasia, phlebectasia, occasional ulceration and atrophy, and tendency for clinical improvement. Histopathologic findings seldom have been reported. We report a case of CMTC with atypical histopathologic findings of proliferation of vasculature in addition to dilated capillaries in the dermis. We have reviewed all cases of CMTC with histopathologic findings published in the English-language literature. The most common and prominent finding was dilation of capillaries and veins in the dermis (13/15 cases). Two cases, including our own, demonstrated proliferation of vascular channels. The implications of vascular proliferation on the clinical course of CMTC are unclear.  相似文献   

17.
A 23-year-old man with angiomatous lesions on the left half of the body, varicose veins and hypertrophy of soft tissue and bone of the left upper limb is reported. Of particular interest was the association with angiomatous lesions on the left half of the face with visual disturbance. The combination of Klippel-Trénaunay-Weber syndrome and an incomplete form of Sturge-Weber syndrome could suggest a nosological relationship.  相似文献   

18.
患儿男,出生2 h,出生时发现左下肢增粗伴皮疹。皮肤科情况:左侧腹部背部、左下肢可见酒红斑痣,左下肢增粗。辅助检查:X线平片示左侧股骨骨皮质较右侧增厚,MRI提示左侧腹股沟区见团片状异常信号影。诊断:Klippel-Trenaunay综合征。  相似文献   

19.
A 30-year-old businessman, weighing 94 kg, presented with pigmentation and skin changes extending from the calf to the dorsum of the left foot. One year ago, the patient noticed erythema around the medial malleolus and edema of the ankle, following trauma while starting a bike. The patient was afebrile during the event. He gave no history suggestive of muscle weakness, cramping calf pains at rest, intermittent claudication while walking, paresthesia, or increased sensitivity to cold. No history suggestive of systemic involvement was obtained. On examination, the affected part showed pigmentary color changes varying from brown to bluish black (diffuse around the ankle and mottled towards the knee). The overlying skin was warm, indurated, brawny, and stony hard. Along with patchy hair loss, there was a painless decrease in the mobility of the left ankle. The circumference of the left calf and ankle measured approximately 2.5 cm less than the corresponding right side. The skin on the thigh above was hypertrophied and pachydermatous. There was no evidence of varicose veins. The blood count, urine analysis, erythrocyte sedimentation rate, bleeding, clotting, and prothrombin time were all within normal limits. Blood sugar levels were moderately elevated. Antinuclear-antibodies were absent. Histopathology of the skin biopsy showed uniform thinning of the epidermis, with focal areas of increased pigmentation in the stratum basale. A sparse perivascular lymphocytic infiltrate was seen around the superficial and deep vessels of the retioular dermis. The collagen bundles were closely packed, homogeneous, thickened, and deeply stained. The subcutaneous tissue was replaced with collagen fibers, thus resembling a scleroderma-like picture. Color Doppler showed evidence of segmental thrombosis in the left posterior tibial and peroneal veins. Before the dermatologic referral, the patient had been treated with intravenous heparin followed by tablet aspirin. We advised dietary restrictions for weight reduction and control of diabetes. In addition, we recommended vitamin supplements and compression stockings. The patient was taught limb care with special emphasis on leg elevation and exercise (to hasten the development of collaterals).  相似文献   

20.
The X-linked dominant CHILD syndrome (congenital hemidysplasia with ichthyosiform nevus and limb defects) is a rare developmental defect characterized by a strictly lateralized inflammatory nevus. In the majority of cases, the right side of the body is affected. Ipsilateral hypoplastic lesions may involve the brain, skeletal structures, lungs, heart or kidneys. We describe a case of CHILD syndrome involving the left side of the body. Absence of metacarpal, metatarsal and phalangeal bones of the left hand and foot resulted in oligodactyly, with only 3 fingers and 1 toe. An ipsilateral inflammatory epidermal nevus with hyperkeratosis, parakeratosis, acanthosis and perivascular lymphohistiocytic infiltrate was strictly confined to the left half of the patient's body. The phenotype was shown to be associated with a deletion of exons 6-8 of the X-linked NSDHL gene, confirming that CHILD syndrome is due to loss of function of an enzyme involved in cholesterol biosynthesis.  相似文献   

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