False-negative prenatal diagnosis of restrictive dermopathy.

Restrictive dermopathy is a rare autosomal recessive lethal skin dysplasia. It has been assumed that the characteristic morphologic abnormalities should allow a reliable prenatal diagnosis on fetal skin biopsies at about 20 weeks pregnancy. We report on a false-negative prenatal diagnosis.     

"Blind" versus direct vision technique for fetal skin sampling in cases for prenatal diagnosis

Seven fetuses at risk of developing a serious inherited skin disorder (epidermolysis bullosa atrophicans generalisata gravis in 4, bullous ichthyosiform erythroderma in 2, and non-bullous ichthyosiform erythroderma in 1) were subjected to prenatal diagnosis by fetal skin sampling. The conventional "blind" biopsy procedure was used in the first 3 cases; a two-cannula technique (one cannula for the optic instrument and the other for the biopsy forceps) that permits biopsy of the skin under direct vision, was employed in the remaining 4 cases. With the "blind" technique, 8 to 10 biopsy specimens had to be taken to ensure that enough skin material would be available for the microscopic examination; only one specimen out of every two was found to consist of skin; the remainder comprised fetal membranes, myometrium, or tro-phoblast. In one case where the "blind" procedure had been used, leakage of amniotic fluid occurred and labor started in the 33rd week. With the two-cannula technique, the number of biopsy samples could be confined to two or three, and all proved to be of skin.     

Rapid processing of fetal skin for prenatal diagnosis by light and electron microscopy.

A method has been developed for rapid processing of fetal skin for prenatal diagnosis of hereditary skin diseases by light and electron microscopy. Fixation, dehydration, embedding, and polymerisation can be achieved in about 5 h. The quality of tissue preservation compares favourably with that produced by slower conventional techniques. This procedure may provoke a wider interest in the potential use of fetal skin biopsy in prenatal diagnosis, especially if identification of structural abnormalities is a feasible alternative to more time consuming biochemical analysis.     

Restrictive dermopathy: Report and review

Restrictive dermopathy (RD) is a lethal autosomal recessive genodermatosis (MIM No. 275210) in which tautness of the skin causes fetal akinesia or hypokinesia deformation sequence (FADS). Polyhydramnios with reduced fetal movements is followed by premature delivery at around 31 weeks gestation. Manifestations include a tightly adherent, thin, translucent skin with prominent vessels, typical facial changes, generalized joint contractures, enlarged fontanelles, dysplasia of clavicles, respiratory insufficiency, and an enlarged placenta with short umbilical cord. Histologic abnormalities of the skin include thin dermis with paucity and hypoplasia of the appendages and abnormally arranged collagen bundles. Elastic fibers are nearly missing. The subcutaneous fat is slightly increased. These skin findings usually appear after 22 or 24 weeks of gestation, which is why prenatal diagnosis with skin biopsy may fail. This disease is easily differentiated from other congenital FADS, such as Pena-Shokeir syndrome, COFS syndrome, Paraná hard-skin syndrome, etc. We report on an affected boy of consanguineous parents and 30 previous cases are reviewed. Am. J. Med. Genet. 71:179–185, 1997. © 1997 Wiley-Liss, Inc.     

Prenatal diagnosis of bullous ichthyosiform erythroderma: detection of tonofilament clumps in fetal epidermal and amniotic fluid cells.

The prenatal diagnosis of bullous ichthyosiform erythroderma (BIE) has been achieved at 20 weeks' gestation by electron microscopic identification of a pathognomonic cytoskeletal abnormality within fetal epidermal cells obtained by fetoscopic skin biopsy. The same abnormality was also observed in skin derived amniotic fluid cells. The question whether amniocentesis might be used instead of fetoscopy for future prenatal detection of BIE is discussed.     

Prenatal diagnosis of X-linked hypohidrotic ectodermal dysplasia by linkage analysis

Prenatal diagnosis of X-linked hypohidrotic ectodermal dysplasia was previously performed by the direct histological analysis of fetal skin obtained by late second trimester fetoscopy. The recent gene mapping of the locus for the disorder to the region of Xq11-21.1 now permits the indirect prenatal diagnosis of the disorder by the method of linkage analysis, based on closely linked marker loci, during the first trimester of pregnancy. We report the prenatal diagnosis of a male fetus with a high probability of the disorder by a linkage analysis utilizing restriction fragment length polymorphisms at the DXS159, PGK1, and DXS72 loci, from a DNA sample obtained by a chorionic villus biopsy at 9 weeks gestation. After further counseling, the pregnancy was terminated but the diagnosis could not be confirmed by histological analysis, even though analysis of skin samples by light and electron microscopy showed lack of hair germs, primary dermal ridges, and sweat gland primordia, due to the early developmental stage of the fetus. The use of DNA-based linkage analysis now offers the opportunity for an earlier diagnosis of X-linked hypohidrotic ectodermal dysplasia by a method other than fetal skin sampling. However, families must also fully understand the present limitations of the method prior to undertaking the procedure.     

Prenatal diagnosis and fetal pathology of aspartylglucosaminuria

The prenatal diagnosis of aspartylglucosaminuria (AGU), a lysosomal storage disorder of glycoprotein degradation, was made by demonstrating the deficiency of N-aspartylglucosaminidase on cultured cells from a midterm amniotic fluid sample. Four other amniotic fluid studies from at-risk pregnancies gave a normal or a heterozygote level of enzyme activity. These pregnancies have gone to term and the delivery of healthy babies. The pregnancy with the affected fetus was terminated and the prenatal diagnosis was verified by enzyme assays on cord blood lymphocytes, cultured cells from skin biopsy, and from placental villi. Electron microscopic evidence of lysosomal storage was seen in several organs of the fetus with the notable exception of the central nervous system. The undifferentiated mesenchymal fibroblasts particularly were heavily loaded with cytoplasmic inclusions in skin, liver, kidney, and placenta.     

Maternal age and recommendation of amniocentesis

We report on the prenatal diagnosis of epidermolysis bullosa letalis with pyloric atresia in a pregnancy not known to be at risk for this condition. Elevated maternal serum alphafetoprotien levels led to ultrasonography which demonstrated gastric dilatation, consistent with pyloric atresia, and echogenic particles in the amniotic fluid, the “snowflake sign,” previously described in two pregnancies of fetuses with disorders of skin sloughing. Amniotic fluid alpha-fetoprotien was markedly elevated and the acetylcholinesterase was positive. The diagnosis of epidermolysis bullosa letalis with pyloric atresia was confirmed after delivery by electron microscopy of fetal skin which showed typical changes of hypoplastic absent hemidesmosomes and separation along the dermal-epidermal junction. None of these abnormal prenatal findings are consistently present in pregnancies with epidermolysis bullosa with pyloric atresia. Thus, although useful when abnormal, when the test results are normal, the need for confirmatory fetoscopy and fetal skin biopsy remains. © 1993 Wiley-Liss, Inc.     

Prenatal diagnosis of Fanconi anemia

Prenatal diagnosis was performed on a fetus at risk for Fanconi anemia. A high spontaneous (0.30 breaks/cell) and diepoxybutane-induced (0.69 breaks/cell) chromosome breakage rate indicated an affected fetus and the pregnancy was terminated. The anatomic findings in the aborted fetus together with cytogenetic findings in cultured fetal skin fibroblasts confirmed the prenatal diagnosis.     

An Extract from Cultured Human Keratinocytes that Contains the Major Autoantigens Related to Autoimmune Bullous Skin Diseases

Autoantibodies characteristic of autoimmune bullous skin diseases (AIBDs) can be detected by immunoblotting on epidermal, dermal, or bovine muzzle extracts. However, none of those substrates contain all the autoantigens involved in AIBDs, and the diagnosis requires the use of various substrates. Human keratinocytes were cultured under such conditions that they expressed the major autoantigens associated with AIBDs. Forty-two sera with antiepidermal antibodies were immunoblotted on the keratinocyte extract. Bands corresponding to desmoglein III, desmoglein I, BPAg2, BPAg1, and type VII collagen were found in 38 sera. Desmoplakins I and II were revealed by specific monoclonal antibodies. A review of the patients' charts showed a perfect correlation between the blots and the diagnoses of pemphigus vulgaris, pemphigus foliaceus, bullous pemphigoid, cicatricial pemphigoid, and epidermolysis bullosa acquisita. Four sera revealing no band typical of AIBD were from patients with no autoimmune skin disease. Therefore, a single extract of keratinocytes can be used for the differential diagnosis of AIBDs.     

Prenatal diagnosis of neuronal ceroid-lipofuscinoses

We report on the successful prenatal diagnosis of the late infantile "Jansky-Bielschowsky" variant of the neuronal ceroid-lipofuscinoses (NCL). The fetus was studied at 16 weeks of gestation because of an affected sib. Uncultured amniotic fluid cells were studied by conventional electron microscopic techniques. About one-third of a subpopulation of dark, elongated cells contained one or more deposits of curvilinear cytosomes bound by a single unit membrane. These findings were considered typical of the late infantile variant of NCL. After delivery at term, a skin punch biopsy and a buffy coat preparation from the baby were examined and found to have similar characteristic inclusions, which confirmed our prenatal diagnosis.     

Involucrin expression in adnexal skin tumours

Summary The expression of involucrin was studied in a group of skin neoplasms, mostly of adnexal origin. As happens with other types of epithelial tumours, involucrin was detected in the most differentiated areas (presenting a squamoid or ductal differentiation). No reactivity was observed in non-epithelial skin tumours. These results suggest that involucrin is a specific marker for epithelial and adnexal differentiation of skin tumours and may thus be a useful aid in histopathologic diagnosis and classification of neoplasms.     

网状皮片移植治疗坏死性筋膜炎临床分析

目的 在于探讨坏死性筋膜炎的诊断，病理与治疗方法。方法 回顾性分析7例坏死性筋膜炎患者的临床资料。结果 7例患者中4例行网状自体皮片移植，术后14-20d创面愈合。结论 早期明确诊断是治疗的关键。彻底清创网状皮片移植治疗的有效方法。     

基于U型稠密特征融合的皮肤病灶分割

皮肤病灶图像分割可作为医学相关类疾病辅助诊断的重要依据。针对皮肤病灶区域结构复杂和尺度信息参差错落的特点,提出一种基于U型稠密特征融合的皮肤病灶分割方法。编码器利用稠密网络结构和空洞空间金字塔池化充分提取特征与融合,由稠密空间注意力模块与深度可分离卷积解码深层特征,防止病灶区域周围噪声干扰,同时引入融合压缩注意力模块进一步提高分割性能,通过二值交叉熵与Jaccard系数结合的损失函数优化。在ISBI 2016皮肤病灶数据集进行仿真评估,Jaccard相似度和Dice系数分别达到86.87%和92.98%,有助于提高皮肤病灶诊断效率。     

蠕形螨感染者面部皮肤病发病情况及其原因分析

目的调查蠕形螨感染人群面部皮肤病的发病情况，并分析其面部皮肤病发病的影响因素，为该人群面部皮肤病的防治提供依据。方法对刑台医学高等专科学校部分新生进行问卷调查，并对该人群采用透明胶带粘贴过夜法查螨虫。胶带置于光镜下检查，阳性片计数虫数并进行虫种鉴定。结果共调查800名学生，其中蠕形螨感染者244名，占30．5％（244／800）。蠕形螨感染者有面部皮肤病者70名，占蠕形螨感染者的28．7％（70／244），进行统计学分析发现面部皮肤病发病情况在不同年龄、生源、中学居住环境、皮肤类型、饮食习惯、洗脸方式等方面比较差异有统计学意义（P〈0．05）。结论蠕形螨感染者面部是否发生皮肤病，与感染年龄、居住环境、皮肤类型及生活习惯等有关。     

An immunohistological study of benign and skin tumours: epithelial aspects

Biopsies of normal skin and benign and malignant skin tumours were studied immunohistologically with nine monoclonal antibodies. The study showed that monoclonal antibodies can clearly delineate antigens expressed in different regions of normal skin and that, in general, tumours retain the antigenic pattern characteristic of the region from which they have arisen. These findings indicate the potential value of analysing these patterns of antigenic expression with a panel of monoclonal antibodies both for understanding the pathogenesis of skin tumours (e.g. basal cell carcinomas) and in their differential diagnosis (e.g. squamous cell carcinoma versus keratoacanthoma).     

The wrinkly skin syndrome: a report of a case and review of the literature

A 2 1/2-year-old boy born of Jewish Moroccan parents is reported with physical findings of wrinkled skin on the dorsum of the hands and feet, with poor skin elasticity, syndactyly, mild kyphosis and poor muscle tone, the diagnosis being the wrinkly skin syndrome. All reported cases of this heritable disorder of connective tissue are reviewed and discussed in terms of genetics, ethnic clustering and differential diagnosis.     

Clear‐cell hidradenoma in a child: A diagnostic dilemma for the cytopathologist

Primary cutaneous tumors are infrequently subjected to fine needle aspiration cytology. As a result, the cytological reports of skin adnexal tumors like hidradenoma are scarce in the available literature. A young boy with a painless nodule on forehead underwent fine needle aspiration. The smears showed clusters of epithelial cells containing blue cytoplasm, some of which had vacuolated cytoplasm with mild nuclear pleomorphism and occasional larger hyperchromatic nucleus. The cytological features, in conjunction with the clinical examination, suggested a skin appendageal tumor. Though nuclear pleomorphism and occasional larger nucleus posed a cytological diagnostic challenge, a diagnosis of benign appendageal tumor was suggested, considering the young age of the patient. This was later confirmed as a clear‐cell hidradenoma on excision biopsy. The cytopathologist should consider skin appendageal tumors during evaluation of cutaneous nodules. An accurate diagnosis requires a close clinico‐pathologic correlation. Diagn. Cytopathol. 2009. © 2009 Wiley‐Liss, Inc.     

产前诊断先天性多发性关节挛缩症的探索

先天性多发性关节挛缩症(arthrogryposis multiplex congenita,AMC)是一种少见的先天性疾病,产前诊断先天性多发性关节挛缩症更是罕见,国内仅有极少数例报道。我们最近报道2例,除2个或以上关节屈曲,挛缩外,其中1例的一些体征,如小下颌,颈蹼,颈部皮肤增厚,积水(水肿),上下肢蹼状畸形等国内未见报道;结合国外学者产前诊断的相关文献报道,提出先天性多发性关节挛缩症的超声产前诊断和鉴别要点,超声产前诊断先天性多发性关节挛缩症进行有价值的探索。     

Objective assessment of psoriasis erythema for PASI scoring

Skin colour is vital information in dermatological diagnosis as it reflects the pathological condition beneath the skin. It is commonly used to indicate the extent of diseases such as psoriasis, which is indicated by the appearance of red plaques. Although there is no cure for psoriasis, there are many treatment modalities to help control the disease. To evaluate treatment efficacy, the current gold standard method, PASI (Psoriasis Area and Severity Index), is used to determine severity of psoriasis lesion. Erythema (redness) is one parameter in PASI and this condition is assessed visually, thus leading to subjective and inconsistent results. Current methods or instruments that assess erythema have limitations, such as being able to measure erythema well for low pigmented skin (fair skin) but not for highly pigmented skin (dark skin) or vice versa. In this work, we proposed an objective assessment of psoriasis erythema for PASI scoring for different (low to highly pigmented) skin types. The colour of psoriasis lesions are initially obtained by using a chromameter giving the values L*, a*, and b* of CIELAB colour space. The L* value is used to classify skin into three categories: low, medium and highly pigmented skin. The lightness difference (ΔL*), hue difference (Δh_ab), chroma (ΔC*_ab) between lesions and the surrounding normal skin are calculated and analysed. It is found that the erythema score of a lesion can be distinguished by their Δh_ab value within a particular skin type group. References of lesion with different scores are obtained from the selected lesions by two dermatologists. Results based on 38 lesions from 22 patients with various level of skin pigmentation show that PASI erythema score for different skin types i.e. low (fair skin) to highly pigmented (dark skin) skin types can be determined objectively and consistent with dermatology scoring.