局灶性真皮发育不全综合征1例

局灶性真皮发育不全综合征是一种罕见的遗传性皮肤病,其特征是进行性皮肤缺失,引起真皮发育不全,出现线状皮损,真皮层可见脂肪组织。报道1例女性患儿, 1岁10个月大小。其出生就出现典型的皮肤改变,如沿Bl aschko’s线排列的皮肤菲薄区域、脂肪疝、网状色素斑、脐疝及乳头状瘤样皮损,另外还伴有头发、牙齿、指(趾)甲等异常改变。本文在复习部分文献的基础上,对本病的发病、临床表现及诊断等进行了讨论。     

Histopathological study of focal dermal hypoplasia (Goltz syndrome)

We report a case of focal dermal hypoplasia, or Golz syndrome in a 13-year-old girl. The patient presented with a variety of cutaneous defects, including atrophy-like depressions, striations, a verrucous papilloma, and lipomas. Histopathological examination showed deposits of fat cells or adipose tissue in the dermis, which were subepidermal, mid-dermal, perivascular, or involved the whole dermis. These findings indicate that the adipose tissue in the dermis is a result of dermal dysplasia and not hypoplasia.     

Painful Piezogenic Pedal Papules on a Child with Ehlers-Danlos Syndrome

A 5-year-old girl with Ehlers-Danlos syndrome developed painful piezogenic pedal papules. She had suffered from pain in her heels for the previous two years and had undergone extensive orthopedic examinations that revealed no abnormalities. On admission, she had typical signs associated with piezogenic pedal papules (PPP), with pain induced by standing and disappearance of the lesions and the pain on relief of pressure. These papules were due to herniation of subcutaneous fat into the dermis, possibly because of structural defects of the connective tissue. To the best of our knowledge, this is the first reported case of painful PPP occurring in childhood. We suggest that the herniation of subcutaneous fat in our patient was most probably due to the connective tissue defect that occurs in the Ehlers-Danlos syndrome.     

Techniques for covering soft tissue defects resulting from plantar ulcers in leprosy: Part IV. Use of medial leg flap and medial knee flap

The medial leg flap, based on the cutaneous branches of the posterior tibial artery is raised from the middle and lower regions of the medial aspect of the leg. It has a long pedicle, and it can be used as a free flap to reconstruct the distant soft tissue defects and also as an island flap. We have used this retrograde island flap for surfacing ulcerated areas in six leprosy patients. The flap survived in all cases. At 24 to 60 months follow-up examination, ulceration had not recurred in any of them. The medial knee flap consisting of the skin and subcutaneous tissue of the lower part of the medial side of the thigh and the upper part of the leg, is suitable for covering soft tissue cushion defects of the extremities because of the constant vessels, long pedicle, wide diameter, well-recognizable sensory nerves and less subcutaneous fat. We have used the medial knee flap for the resurfacing sizeable raw areas due to ulceration in three leprosy patients. The flap survived in all cases and there was no recurrence of ulceration during the 70-148 months follow-up period.     

Survival of a male mosaic for PORCN mutation with mild focal dermal hypoplasia phenotype

We report a 46,XY boy with a mild focal dermal hypoplasia phenotype who had both wild-type and mutated copies of the PORCN gene and was, therefore, mosaic for the mutation. He had cutaneous syndactyly, hydronephrosis, and nail dystrophy. Small whitish depigmented spots, which were slightly depressed from the skin surface, were distributed linearly on the trunk and arms. Aside from these findings, streaks of brown-pigmented macules were seen on the dorsal aspect of the legs. Both the linear arrangement of the whitish spots and the streaks of pigmented macules followed the lines of Blaschko. The phenotype of the patient, who did not exhibit cribriform atrophy, telangiectasia or fat herniation, seemed to be much milder than that of typical female patients with focal dermal hypoplasia. Analysis of the genomic DNA extracted from the peripheral lymphocytes revealed a transition 129G>A within exon 1 of PORCN, which leads to a nonsense mutation W43X. The percentage of peripheral lymphocytes carrying a mutation was estimated to be 50% by the subcloning and sequencing of individual clones of the PCR product amplified across the mutation. This patient's case history provides further molecular evidence supporting the concept that "male focal dermal hypoplasia" does exist and that typical features such as telangiectasia and fat herniation are sometimes absent.     

Surgical management of subcutaneous fat necrosis of the newborn required due to a lack of improvement: a very rare case

Subcutaneous fat necrosis of the newborn (ScFN) is an uncommon and transient disease characterized by defined areas of fat necrosis and overlying cutaneous nodule lesions. It usually becomes apparent within the first 6 weeks of life in full‐term or post‐term infants. It is caused by generalized and/or local tissue hypoperfusion. The skin lesions of ScFN tend generally to improve spontaneously in a few weeks. We present a full‐term newborn with birth distress. After therapeutic hypothermia, she presented voluminous and numerous subcutaneous fat necrosis with extensive calcifications. Surgical management was decided at her ninth month because of a total lack of regression. Hypercalcaemia, the most threatening complication, appeared only after this delayed surgery.     

Hair Follicle Nevi and Accessory Tragi: Variable Quantity of Adipose Tissue in Connective Tissue Framework

Abstract: Controversy exists about the histologic differences between hair follicle nevi and accessory tragi. We examined 10 congenital lesions histologicaiiy, possible diagnoses of which were hair follicle nevi or accessory tragi. Two specimens out of the 10 had tiny, mature hair follicles surrounded by thick fibrous root sheaths, a few fat cells, and no cartilage. The subcutaneous fat cells of their bases were segmented by a connective tissue framework. They had histologic features of hair follicle nevi. One specimen had cartilage and abundant fat cells with a connective tissue framework in the nodule, as well as a conglomeration of numerous well-differentiated hair follicles. It possessed both elements of a hair follicle nevus and an accessory tragus. Seven specimens had abundant subcutaneous fat and showed a prominent connective tissue framework. These were typical accessory tragi. The present study suggests that the number of fat cells in the nodule or papule differs between these two conditions. All the lesions studied revealed a connective tissue framework in the subcutaneous fat. Histologic features of both hair follicle nevi and accessory tragi can coexist in a single lesion. Hair follicle nevi may represent incomplete accessory tragi with scant fat cells.     

Sarcoidosis subcutánea

—Subcutaneous sarcoidosis is characterized by mobile, painless, limb nodules composed of sarcoidal granulomas within fatty tissue, without epidermal involvement. Although cutaneous involvement is found in about a quarter of patients with sarcoidosis, subcutaneous nodules, which may occur in association with other cutaneous lesions, are rare. Less than 40 cases of subcutaneous sarcoidosis have been published the literature.We here report the case of a 63 year-old woman who presented deep, nodular and subcutaneous plaques in extremities for the last 15 days. Histopathology of the cutaneous lesions revealed noncaseating granulomas in subcutaneous tissue, consistent with subcutaneous sarcoidosis. Special stains failed to show foreign material, fungi or acid-fast organism. Thoracic lymphadenopathia were noted in a chest X-ray. Treatment with steroids during 2 months induced an excellent response.     

Focal dermal hypoplasia syndrome in a male patient. Report of a case and histologic and immunohistochemical studies.

BACKGROUND--Focal dermal hypoplasia (FDH) is a rare ectomesodermal dysplasia syndrome characterized by cutaneous, skeletal, dental, ocular, and soft-tissue defects. An X-linked dominance with death of male subjects has been assumed as the mode of inheritance. Only a few cases of FDH have been reported in male subjects. A 68-year-old man had typical skin lesions of FDH. Clinical, histologic, and immunohistochemical features are presented. OBSERVATIONS--The cutaneous abnormalities consisted of atrophic hyperpigmented and hypopigmented macules and erythematous, slightly raised lesions showing a highly characteristic linear distribution. Other abnormalities, including syndactyly, apocrine hidrocystoma of eyelids, and bilateral cholesteatoma were observed. Only one case of FDH in association with an apocrine hidrocystoma has been reported previously. Consistent findings microscopically in the erythematous lesions were areas of scar formation with subepidermal bulla overlying the neodermis. A strongly positive immunohistochemical reaction for vimentin, fibronectin, and collagen type III was observed in the scar tissue. No collagen type IV was detected in the basement membrane zone of the epidermis covering the lesion. CONCLUSION--It has been proposed that fibroblastic abnormalities may lead to an alteration of collagen synthesis in FDH, although confirmation of this hypothesis was unavailable. Our findings suggest that production of collagen type IV may be delayed in FDH resulting from a fibroblastic defect.     

Anetoderma arising in Reed syndrome: a case report and review of the literature

Anetoderma is a cutaneous disorder characterized by loss of dermal elastic tissue resulting in papules from herniation of subcutaneous tissue or circumscribed areas of atrophic, wrinkled skin. Familial leiomyomatosis cutis et uteri (Reed syndrome) is an autosomal dominant disorder characterized by cutaneous and uterine leiomyomas. We report a 23‐year‐old male with Reed syndrome who presented with asymptomatic pearly white, atrophic, flaccid papules on the upper back and shoulder that depressed when palpated. Pathologic examination showed an unremarkable epidermis and central loss of dermal elastin, bordered by clumped elastin, as revealed with an elastin stain. The correlation of clinical and pathologic findings indicated a diagnosis of anetoderma arising in a patient with Reed syndrome.     

Nevus angiolipomatosus vs focal dermal hypoplasia.

Widespread linear hamartoma of vascular, elastic, adipose, and connective tissue was observed in two girls with another and opposite defect, that of failure of development of focal areas of dermis. No abnormality in number or chromosones was found. Multiple associated defects of development of mesodermal and ectodermal tissues were present. The fat tissue appeared to be associated with vascular proliferation in the papillary bodies and to crowd out the corium by downward infiltration of newly developed fat. Elastic tissue fibers were demonstrable crossing between the fat cells and were prominent in the superficial dermis. There was a definite stratum of dermis dividing the superficial nevus fat and the normal subcutaneous fat. This evidence justifies the explanation of the superficial fat tumors as nevoid neoplasms rather than herniations of subcutaneous fat.     

Cutaneous zosteriform squamous cell carcinoma metastasis arising in an immunocompetent patient

Cutaneous metastases from internal malignancies or primary skin cancers are uncommon, and a zosteriform pattern is very rare. Histologically, these cutaneous metastases usually appear as malignant epithelial cells located throughout the dermis or subcutaneous fat and without connection to the overlying epidermis. The presence of melanocytes in such lesions is atypical. Moreover, although zosteriform cutaneous metastases of cutaneous squamous cell carcinoma have previously been described in immunosuppressed patients, they have not been reported in immunocompetent patients. We report an unusual case of a woman with cutaneous hyperchromic zosteriform metastases, clinically mimicking a metastatic melanoma but appearing histologically as epidermotropic and pigmented metastases of a cutaneous squamous cell carcinoma.     

Experiencia en el tratamiento de satelitosis y metástasis cutáneas en tránsito de melanoma con interleucina 2 intralesional

IntroductionAlthough metastatic melanoma has a poor prognosis, cutaneous metastases represent a special case given their ready accessibility, making it possible for dermatologists to apply local treatment. We report our experience with intralesional treatment with interleukin (IL) 2 in 7 patients with cutaneous metastases from malignant melanoma.Material and methodsA total of 244 lesions in 7 patients with satellitosis and/or cutaneous metastases from malignant melanoma were treated with intralesional IL-2 twice a week. The maximum dose in each patient ranged from 3 to 18 million units per session, according to the number and size of lesions.ResultsComplete or partial remission was achieved in almost all lesions (95.9 % and 3.7 %, respectively). Only 1 lesion (0.4 %)—the largest and located subcutaneously—did not respond to intralesional treatment and required alcoholization and subsequent surgical removal to achieve cure. All partial responses occurred in subcutaneous lesions larger than 2 cm. Treatment was well tolerated with only a few mild side effects (grade 1-2).ConclusionsIL-2 may be an effective and well-tolerated treatment option in patients with satellitosis and cutaneous metastases from melanoma. Lesions smaller than 2 cm and located in the epidermis or superficial dermis respond better than those larger than 2 cm or located in the subcutaneous cellular tissue. More studies are necessary to establish appropriate doses and regimens.     

Adult lipophagic atrophic panniculitis

We report two patients with chronic, recurrent, nodular panniculitis lesions that later developed areas of lipoatrophy. Histologically, there was a consistent lobular lipophagic replacement of fat cells with lipophagic giant cells. The clinical appearance was that of tender, erythematous, superficial or subcutaneous, symmetrical nodules and plaques of 1-2 weeks' duration. The lesions could occur with episodes of fever. One patient had hepatomegaly and the other had an increased sedimentation rate and leucocytosis. The histology and the clinical pattern of the panniculitus syndrome resembled those of lipophagic lipoatrophy of childhood. This is a panniculitis of unknown cause in which the principal inflammatory cell response in the subcutaneous tissue is the macrophage.     

Multiple granular cell tumors in a child with growth retardation. Report of a case and review of the literature

Granular cell tumor is an uncommon benign tumor, most often found in the skin and subcutaneous tissue, although it may occur at any anatomical site. Multiple cutaneous lesions are rare, particularly in childhood. An association between multiple cutaneous granular cell tumors and systemic defects has been suggested. We report a case of a 9-year-old boy with multiple cutaneous granular cell tumors and growth retardation, and review the literature.     

Congenital Ventral Hernia in Association with Focal Dermal Hypoplasia

Abstract: Focal dermal hypoplasia is a rare, X-linked dominant syndrome characterized by dysplasla of the skin, skeleton, and central nervous system. We report an intant who was born with severe focal dermal hypoplasla and an epigastric hernia. Operative timing and approach to abdominal wall defects in the presence of severe cutaneous dysplasia are discussed.     

Peripheral T-cell lymphoma involving subcutaneous tissue

The peripheral T-cell lymphomas, presumably derived from various immunocompetent peripheral T-cell system components, form a heterogeneous group of non-Hodgkin's lymphomas. We describe two patients with peripheral T-cell lymphoma primarily involving subcutaneous tissue. They presented with multiple subcutaneous nodules. Skin biopsy specimens in both patients demonstrated a lobular subcutaneous infiltrate. The infiltrate consisted of small and medium-sized atypical lymphoid cells. Both patients had a protracted clinical course before they were diagnosed as having malignant lymphoma. We detected latent Epstein-Barr virus infection in the skin lesions of case 2. Latent Epstein-Barr virus infection might be related to the development of this variant of peripheral T-cell lymphoma.     

Clinicopathologic spectrum of specific cutaneous lesions of disseminated coccidioidomycosis.

BACKGROUND: Disseminated coccidioidomycosis merits greater attention because the number of persons living and traveling in endemic areas is increasing. OBJECTIVE: Our purpose was to study the clinical and histopathologic findings in patients with specific cutaneous disseminated coccidioidomycosis. METHODS: In six patients with specific skin lesions of disseminated coccidioidomycosis, the diagnosis was confirmed by identification of the organism in tissue or by positive results of tissue culturing. RESULTS: Clinical lesions included solitary granulomatous plaques in two patients and multiple papular, nodular, or pustular lesions in four patients, two of whom also had subcutaneous abscesses. Identifying organisms directly in tissue was possible in only 8 of 17 biopsy specimens and in five of six patients. The histopathologic features showed various degrees of three primary patterns: (1) abscess formation with necrosis, (2) epithelial hyperplasia and granuloma formation with microabscesses, and (3) vascular and perivascular proliferative and inflammatory cell reactions at times suggesting vasculitis. Tissue eosinophilia, present in all patients, was striking in two (eosinophilic abscess formation) and notable in another (vascular inflammation with eosinophilia). CONCLUSION: Cutaneous manifestations of disseminated coccidioidomycosis may be more common and varied than usually recognized.     

A case of focal dermal hypoplasia (Goltz) syndrome with exophytic granulation tissue treated by curettage and photodynamic therapy

Focal dermal hypoplasia (Goltz) syndrome is a rare genetic disorder characterized by cutaneous, ectodermal and mesodermal defects. We present a case in which painful, exophytic granulation tissue has been the main symptom over the past 15 years. After unsatisfactory results with a number of treatment modalities including topical steroids, silver-nitrate applications, cryotherapy, curettage, excision and pulsed-dye laser, we achieved significant benefit with curettage in combination with photodynamic therapy. Although impaired wound healing has been described in focal dermal hypoplasia, this is, to our knowledge, the first time that pyogenic granuloma-like lesions have been reported.