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Background Unilateral lower limb swelling has wide differential diagnoses with varying treatment plans, requiring an early and accurate diagnosis. Doppler ultrasound offers an extensive examination of the vascular system providing a platform for diagnosis and avoidance of unnecessary invasive procedures. Thus, it becomes pertinent to ensure that all the sonographic information required for the accurate diagnosis of a swollen lower limb is documented and critically analyzed in our setting, hence this study. Results The records of a total of 151 patients with acute unilateral lower limb swelling were retrieved, females constituted the majority (51.7%). The overall mean age was 58.70 ± 16.71 years. Statistical significance was specified at p ≤ 0.05 for this study. The males were on the average 1.86 years younger than the female, but this difference was not statistically significant (p = 0.495). Patients older than 60 years constituted the majority 72 (47.7%) followed by the 40–60-year age category 61 (40.4%), and the left lower limb was affected more often 82 (54.3%). Multiple inguinal lymphadenopathy 82 (35.7%) and edema with thickened skin and subcutaneous layers 67 (29.1%) were the two most recurrent ultrasound features. There was no significant association between the sonographic features and the diagnoses made for acute unilateral lower limb swelling, except for the feature of edema with thickened skin and subcutaneous layers (p = 0.004) and the diagnosis of cellulitis (p = 0.047) that increased significantly with age. Conclusion Multiple inguinal lymphadenopathy and edema of the skin and subcutaneous layers were the most recurrent ultrasound features with cellulitis as the main diagnosis for acute unilateral lower limb swelling in our setting. Edema with thickened skin and subcutaneous layers and cellulitis both increased significantly with age. Sonographers, sonologists, and radiologists must be on the look-out for these in their practices.

Background of the study: Leprosy is a wide spread infectious disease caused by mycobacterium leprae & usually starts as a patch on the skin, but it can also affect & damage the nerves leading to secondary impairments in the face, hands and feet. Plantar ulceration is one of the common impairment occurring in subjects of leprosy, which punched out ulcer surrounded by thickened skin due to direct pressure, shearing force, direct injury, heat. It may occur as sinuses or as shallow ulcers involving the tissues at various level and usually heal with good wound care and dressings, but takes longer time.Objective of the study: To evaluate and compare the improvement of healing of plantar ulcer during 4-week intervention period in leprosy subjects treated with active resisted exercise vs subjects treated conventionally. MethodsDesign: Quasi randomised trial.Study settings: The central leprosum, govt hospital, magadi road, bengaluru.Sample size: 26Outcome measures: Wound area measurement in mm2 on a graph paper.Results: The mean value of ulcer area at baseline for group A was 1038.15(599.77) mm2 & group B was 997.07(804.47) mm2 and at day 30 the value for group A is 318(311.65) mm2 & for group B is 720.84(673.19) mm2. This study showed a significant improvement in reduction of ulcer area in both the groups. Group A demonstrated significantly better improvements than Group B. Conclusion: Active resisted exercise showed a significant improvement in healing of planter ulcer of leprosy subjects compared to control group

Background Palmoplantar hyperkeratosis is a cutaneous manifestation that had not been clearly associated with infection by the human T-cell lymphotropic virus, which is a retrovirus that in most cases does not develop clinical pathologies and its symptoms may be undetected. The skin is one of the most affected organs, however until now only seborrheic dermatitis, xerosis/ichthyosis and infective dermatitis associated with HTLV-1 have been described as cutaneous clinical manifestations of this disease. Case presentation We present the case of a 36-year-old male patient with serologically documented HTLV-1 infection, who presented symptoms of diarrhea, malabsorption due to Strongyloides stercoralis, and in whom a physical examination revealed an association with generalized xerosis and palmoplantar keratoderma confirmed by skin biopsy. Other infectious etiologies and malignancy were ruled out. This clinical manifestation was managed with dermal hydration, and skin care which improved the thickened skin and make it less noticeable. Conclusions According to our experience, this is the first reported case of palmoplantar keratoderma associated with a human lymphotropic virus infection. This is a skin manifestation that has not been confirmed in conjunction with HTLV-I before. This implies that palmoplantar keratoderma is a new clinical manifestation of this infection, that should be considered in the initial approach of patients in endemic areas with these dermatological characteristics.

Taxanes, such as docetaxel, are chemotherapeutics used to treat various malignancies. In this report, we discuss a patient with prostate cancer who developed a taxane-induced sclerodermoid reaction, a rare adverse effect of these medications.

Morphea profunda is a variant of localized scleroderma, in which inflammation and sclerosis are found in the deep dermis, panniculus, fascia, or superficial muscle. It generally presents as diffuse, taut, and thickened skin, which is bound to the underlying tissue. Most cases have widespread involvement, but localized lesions have also been reported. We report a case of localized morphea profunda presenting with papular and vesiculobullous lesions on the overlying skin in a 50-year-old female patient who was successfully treated with methotrexate and systemic steroids.

Mange mite infestation caused by Sarcoptes, Demodex, Psoroptes, and Chorioptes mites have been described in camels from different countries, but the first two are the most involved. Sarcoptesscabiei var. cameli is a tiny, rounded parasite, has a circular outline with four pairs of short and stumpy legs. Mange can be transmitted by direct contact between animals indirectly through fomites. The parasite can infect all parts of the skin. Factors affecting mange infection include sex, age, season, crowding, and animal health. The disease is characterized by the presence of small, circumscribed skin nodules about 1–2 cm in diameter, which may contain large numbers of mites. Itching and loss of hair or secondary infections are not usually, and more advanced lesions exhibit thickened skin, moist dermis, white to grey crusts, and loss of hair. Diagnosis of mites can be made microscopically on deep skin scrapings from affected animals using a scalpel blade (until capillary bleeding is seen). The parasites detected can then be identified based on morphological characteristics using standard key references. The application of chemicals can achieve control of mange mites on camels, but the disease is stubborn, and only a conscientious and thorough regime is likely to succeed.

BACKGROUND: This study aimed to assess the different types of port-wine stain (PWS) skin lesions quantitatively using high-frequency ultrasound (US) and shear wave elastography (SWE) before and after treatment, and investigate the feasibility and application value of high-frequency US and SWE in PWSs. METHODS: A total of 195 PWS patients with 238 skin lesions before treatment and 72 follow-up PWS patients with 90 skin lesions were assessed using high-frequency US and SWE. The skin lesions were divided into four groups: pink-type, purple-type, thickened-type, and nodular-type PWSs. Gray-scale US was used to observe normal skin, observe the skin changes of lesions, and assess the skin thickness. The thickened skin was calculated. Power Doppler (PD) signal grades were used to assess the skin blood signals. SW velocity (in m/s) and Young’s elastic modulus (in kPa) were used to assess the stiffness of normal skin and skin lesions. The heightened SWE was also calculated. RESULTS: The dermis hypoechogenicity, thickness of thickened skin, and skin PD signal grades were significantly higher in all PWS-type groups compared with the normal-skin group (all P

Thrombotic disease represents a rare manifestation of leprosy. In this study, we report the case of an external jugular vein thrombosis associated with tuberculoid leprosy in a 23-year-old male patient. The patient presented with a 3-month history of painful cord-like swelling on the left side of the neck and a nearly 3-week history of skin lesions on the left cheek and right leg. Physical examination revealed cord-like, tender swelling on the left lateral aspect of the neck overlying the sternocleidomastoid muscle, and a hypopigmented, hypoaesthetic 6×7 cm lesion with an irregular margin on the left cheek. A Doppler ultrasound examination of the jugular vein showed thrombosis of the left external jugular vein. Three-dimensional reconstruction of the computed tomography scan showed the enlarged and enhanced left external jugular vein, as well as 1 of its tributaries, and the thickened skin patch. A skin punch biopsy from the left cheek lesion revealed granulomatous inflammation with occasional peri-adnexal granulomas, consistent with the clinical impression of tuberculoid leprosy. A diagnosis of leprosy with external jugular vein thrombosis was established. Anticoagulation therapy was initiated, and the patient was referred to an infectious disease clinic for treatment with anti-leprosy medications. LEARNING POINTS Thickened cord-like neck swelling in leprosy can be vein thrombosis rather than a thickened nerve. Leprosy should be considered if a skin lesion is associated with thrombosis. The common causes of upper extremity DVT.

Objectives The hemodynamics of the ultrasound (US) features of port-wine stains (PWSs) have not been reported. The purpose of this study was to evaluate the high-frequency US findings of PWSs. Methods We retrospectively reviewed 98 PWS cases and categorized them into 4 groups based on clinical manifestations and pathologic findings (14 nodular, 28 thickened, 52 flattened, and 4 acquired). We evaluated the US findings with 10- and 22-MHz transducers. Results For nodular PWSs, the mean thickened skin ± SD was 0.6 ± 0.5 mm, and the nodule thickness was 5.7 ± 3.3 mm; 63.6% of skin lesions showed vessel density of 2.16 ± 0.93/cm2 with venous flow of 4.6 ± 1.1 cm/s, and all nodules showed vessel density of 6.14 ± 1.92/cm2 with arterial and venous flow of 26.6 ± 17.9 and 9.9 ± 5.1 cm/s, respectively. The thickened skin of the thickened type was 1.4 ± 2.7 mm; 76.5% of skin lesions showed vessel density of 3.81 ± 1.98/cm2 with venous flow 4.6 ± 2.1 cm/s. The thickened skin of 36 flattened lesions was 0.1 ± 0.1 mm; 91.7% of skin lesions showed vessel density of 1.08 ± 0.28/cm2 . The thickened skin of 4 acquired lesions was 0.7 ± 0.4 mm; 50% showed vessel density of 1.08 ± 0.28/cm2 . The thickened skin and vessel density of nodular and thickened PWSs were thicker and higher than those of the flattened ones. The 22-MHz transducer produced clearer contrast and higher vessel density than the 10-MHz transducer. Conclusions These results showed differences in US findings of PWSs, which may be useful for clinical diagnosis.

Pachydermoperiostosis (PDP), or primary hypertrophic osteoarthropathy (PHO), is a rare hereditary disease mainly affecting skin and bones. The common clinical manifestations include digital clubbing, periostosis, and pachydermia. Patients often visit physicians because of thickened skin. However, the major concern of our patient was severe oedema of lower limb, although thickened facial skin also presented. Ascending phlebography revealed insufficient valve function of deep vein in lower limb. A reconstructive surgery was performed by enhancing the valve with tendon and by ligation of the great saphenous vein. Based on previous literatures, we hypothesize that the mechanism underlying the abnormalities in the valve of deep vein may be similar to that in skin and bones. We first report a PDP patient with a valve insufficiency treated with reconstructive surgery and we suggest that phlebography should be performed when the PDP patients present with severe pitting oedema in lower limbs.

Girl, aged 4 years old, began the disease with pain of the lower extremities, fever up to 38°C and signs of upper airway infection. Then the patient developed oedema and redness of the whole face, thickened skin, subcutaneous nodular foldings of the frontal, occipital, cervical and axillary regions, extensor areas of the joints; fine, hard whitish nodules in the frontal region and over interphalangeal joints of the hands, pruritus; oedemas of the ankles, knees and joints of the hands, cervical lymphadenopathy and hepatomegaly. Blood tests at the moment of the diagnosis revealed elevation of markers of inflammation as ESR and CRP, leukocytosis, thrombocytosis, hypoalbuminemia, and hyper-alfa-2-globulinemia. Histopathological examination of the skin biopsy specimen and subcutaneous tissue revealed myxoid subcutaneous tissue located under the dermis and a section consisting of myxoid mesenchymal tissue with inflammatory infiltration by histiocytic cells. The presence of acid mucopolysaccharides in fields of the myxoid tissue was also observed. The self-healing juvenile cutaneous mucinosis (SJCM) was diagnosed.

Patchy thickening and reddish discoloration of active hair growth areas of skin in rabbits are occasionally found, and this gross feature could affect precise evaluation when conducting a dermal irritation test. Since little is known about the mechanism of this phenomenon, we examined the dorsal skin of New Zealand White rabbits morphologically and immunohistochemically in order to identify the possible mechanism responsible for developing these skin changes in relation to the hair cycle. Skin samples from 4 rabbits were divided into three groups (5 samples/group) based on their macroscopic characteristics: a thickened skin, erythematous skin, and smooth skin group. Histomorphological examination revealed that the percentage of hair follicles in the anagen phase, hair follicle length, hair follicle area, and proliferating cell nuclear antigen-positive cells in the hair follicles were greater in the thickened skin and erythematous skin groups than in the smooth skin group. Unlike mice and rats, the dermis was nearly adjacent to the muscular layer with a thin hypodermis, and the whole lengths of hair follicles in the anagen phase were located in the dermis in the rabbit skin. These results suggest that large hair follicles in the anagen phase compressed the surrounding dermis; therefore, the skin was grossly raised and showed thickening. A higher number of CD31-positive blood vessels, suggesting the occurrence of angiogenesis, was observed around the hair follicles in the erythematous skin group, and they seemed to affect the reddish discoloration of skin noted grossly.

Systemic sclerosis (SSc) is an orphan multi-organ disorder hallmarked by thickened skin (scleroderma), interstitial lung disease, pulmonary hypertension and major gastro-intestinal tract (GIT) invo...

Reports of dermal sclerosis in dogs include scleroderma or morphea of unknown cause, cicatricial alopecia and congenital/hereditary fibrosis.A 12-year-old, male castrated chihuahua-mix dog was evaluated for skin lesions of unknown duration. The dog had severe alopecia, skin thickening and marked peripheral lymphadenopathy. Lymph node cytological investigation, immunohistochemical investigation and clonality testing demonstrated an intermediate to large B-cell lymphoma. The thickened skin had severe collagen deposition, effacing adnexal structures. The dog's lymphoma was treated but the skin lesions remained unchanged. The dog was euthanized.To the best of the authors' knowledge, this is the first report of multicentric B-cell lymphoma in a dog with concurrent diffuse cutaneous sclerosis, similar to a human paraneoplastic reaction.Les descriptions de sclérose dermique chez le chien comprennent la sclérodermie ou morphée de cause inconnue, l'alopécie cicatricielle et la fibrose congénitale/héréditaire. RÉSUMÉ CLINIQUE: Un chien chihuahua croisé mâle de 12 ans a été examiné pour lésions cutanées évoluant depuis une durée inconnue. Le chien présentait une alopécie sévère, un épaississement cutané et une lymphadénopathie périphérique. La cytologie ganglionnaire, l'immunohistochimie et les tests de clonalité ont montré un lymphome à cellule B, intermédiaire à large. La peau épaissie avait un dépôt sévère de collagène effaçant les structures annexielles. Le lymphome du chien a été traité mais les lésions cutanées sont restées identiques. Le chien a été euthanasié.A la connaissance des auteurs, ceci est la première description de lymphome B multicentrique chez un chien avec une sclérose cutanée diffuse concomitante semblable à une réaction paranéoplasique humaine.INTRODUCCIÓN: los informes de esclerosis dérmica en perros incluyen escleroderma o morfea de causa desconocida, alopecia cicatricial y fibrosis congénita/hereditaria. RESUMEN CLÍNICO: se presentó para examen de lesiones cutáneas de duración incierta un perro castrado mestizo de Chihuahua de 12 años. El perro tenía alopecia severa, engrosamiento de la piel y marcada linfadenopatía periférica. La investigación citológica de los ganglios linfáticos, la iinmunohistoquímica y las pruebas de clonalidad demostraron la presencia de un linfoma de células B medianas a grandes. La piel engrosada presentaba deposición intensa de colágeno, obliterando las folículos y estructuras anejas. El linfoma del perro fue tratado, pero las lesiones cutáneas permanecieron sin cambios. El perro fue sacrificado. CONCLUSIONES E IMPORTANCIA CLÍNICA: a entender de los autores, este es el primer informe de linfoma multicéntrico de células B en un perro junto con esclerosis cutánea difusa, similar a una reacción paraneoplásica humana.Berichte über eine dermale Sklerose bei Hunden beinhalten die Beschreibung einer Sklerodermie oder Morphea unbekannter Ursache, zikatrische Alopezie und eine kongenitale/hereditäre Fibrose.Die Hautveränderungen eines 12 Jahre alten kastrierten Chihuahuamischlingsrüden von unbekannter Dauer wurden evaluiert. Der Hund zeigte eine ausgeprägte Alopezie, Hautverdickung und eine deutliche periphere Lymphadenopathie. Die zytologische Untersuchung der Lymphknoten, eine immunhistochemische Untersuchung und ein Klonalitätstest zeigten ein intermediär- bis großzelliges B-Zell Lymphom. Die verdickte Haut zeigte eine deutliche Kollagenablagerung, die die adnexalen Strukturen auslöschten. Das Lymphom des Hundes wurde behandelt, aber die Hautveränderungen blieben gleich. Der Hund wurde euthanasiert.Nach bestem Wissen der Autoren handelt es sich hierbei um den ersten Bericht eines multizentrischen B-Zell Lymphoms bei einem Hund mit begleitender diffuser kutaner Sklerose, ähnlich einer paraneoplastischen Reaktion beim Menschen.背景: 犬の皮膚硬化症の報告には、強皮症または原因不明の形態、瘢痕性脱毛症および先天性/遺伝性線維症が含まれている。 臨床概要: 12歳、雄の去勢チワワミックス犬における、発症期間が不明な皮膚病変を評価した。 犬は重度の脱毛症、皮膚肥厚、顕著な末梢リンパ節腫脹を有していた。 リンパ節の細胞学的調査、免疫組織化学的調査およびクローナリティ検査は、中型から大型のB細胞性リンパ腫を示した。 肥厚した皮膚には、重度のコラーゲン沈着があり、付属器構造が消失していた。 犬のリンパ腫を治療したが、皮膚病変は変化しなかった。 犬は安楽死された。 結論と臨床的重要性: 著者の知る限り、これは、ヒト腫瘍随伴反応に類似した、犬の多中心型B細胞性リンパ腫に同時に認めたびまん性皮膚硬化症の最初の報告である。.背景: 关于犬皮肤硬化的报告包括不明原因的硬皮病或硬斑病,瘢痕性脱毛和先天性/遗传性纤维化。 临床总结: 对一只12岁去势雄性吉娃娃杂种犬的皮肤病变进行评估。该犬严重脱毛、皮肤增厚和明显的外周淋巴结病。淋巴结细胞学检查、免疫组化检查和克隆性检测,均显示中到大B细胞淋巴瘤。增厚的皮肤发生严重的胶原沉积,毛囊附件结构退化。这只犬的淋巴瘤得到了治疗,但皮肤病变没有改变。犬被安乐死。 结论和临床重要性: 据作者所知,这是被报告的第一例多中心型B细胞淋巴瘤患犬,同时并发弥漫性皮肤硬化,与人的副肿瘤反应类似。.Os achados clínicos de relatos de esclerose dérmica em cães incluem esclerodermia ou morfeia de causa desconhecida, alopecia cicatricial e fibrose congênita/hereditária. ACHADOS CLÍNICOS: Um cão macho castrado de 12 anos, mestiço de chihuahua foi avaliado devido a lesões cutâneas de duração desconhecida. O animal apresentava alopecia intensa, espessamento cutâneo e linfadenopatia periférica importante. A citologia de linfonodos, imunohistoquímica e teste de clonalidade revelaram um linfoma de células B intermediário a avançado. A pele espessada apresentava deposição de colágeno grave e estruturas anexas apagadas. O linfoma foi tratado, mas as lesões cutâneas permaneceram inalteradas. O cão foi eutanasiado. CONCLUSÕES E IMPORTÂNCIA CLÍNICA: De acordo com os conhecimentos do autor, este é o primeiro relato de linfoma multicêntrico de células B em um cão associado à esclerodermia difusa concomitante, similar a uma reação paraneoplásica em humanos.

A 12-year-old girl presented with recurrent crusty debris and dandruff at the base of both eyelashes despite having completed different medical treatments. She had had a hoarse voice since her early childhood. Upon anterior segment examination of the eyes, we found yellow-white, bead-like papules on the margins of the eyelids. An otolaryngologist detected multiple nodules on the vocal cords and buccal mucosa. Ultrasonography revealed salivary stones in the main parotid ducts. And a dermatological examination revealed thickened skin lesions on the elbows and knees with a biopsy showing histopathological findings of lipoid proteinosis. We diagnosed the patients as having Urbach-Wiethe syndrome or lipoid proteinosis, a rare autosomal recessive multisystem disorder with variable manifestations vary that difficult the diagnosis. The ocular manifestations are not well known among ophthalmologists, but the typical lid lesions are pathognomonic and ophthalmologists should be aware of this presentation to identify patients with Urbach-Wiethe syndrome. RESUMO Uma menina de 12 anos apresentava restos crostosos e caspa recorrente na base de ambos os cílios, apesar de ter completado diferentes tratamentos médicos. Ela tinha uma voz rouca desde a infância. No exame do segmento anterior dos olhos, encontramos pápulas amarelo-esbranquiçadas nas margens das pálpebras. Um otorrinolaringologista detectou múltiplos nódulos nas cordas vocais e na mucosa bucal. A ultrassonografia revelou cálculos salivares nos principais ductos parotídeos. Um exame dermatológico revelou lesões cutâneas espessas nos cotovelos e joelhos com uma biópsia mostrando os achados histopatológicos de proteinose lipoide. Diagnosticamos os pacientes da síndrome de Urbach-Wiethe ou proteinose lipoide, um distúrbio multissistêmico autossômico recessivo raro, com manifestações variáveis, que dificultam o diagnóstico. Manifestações oculares não são bem conhecidas entre oftalmologistas, mas as lesões típicas da pálpebra são patognomônicas e os oftalmologistas devem estar atentos a essa apresentação para identificar pacientes com síndrome de Urbach-Wiethe.

Summary Psoriasis is an incurable chronic inflammatory skin disorder. The imiquimod (IMQ)-induced mouse model of psoriasis is the most widely used model for drug discovery and pre-clinical studies of psoriasis. The inflamed and thickened skin frequently compromises the quality of single-cell suspensions generated from IMQ-induced skin lesions, which has an impact on subsequent analyses by flow cytometry. This protocol details the complete procedure for the establishment of a mouse model of psoriasis and flow cytometric detection of immune cells in the inflamed epidermis and dermis. For complete details on the use and execution of this protocol, please refer to Lou et al. (2020)., Graphical Abstract, Highlights • Appropriate strains, ages, and anatomic sites for IMQ-induced mouse model of psoriasis • Easy and effective procedures to process mouse skin after IMQ treatment • High-quality single-cell suspensions generated from inflamed mouse epidermis and dermis • Expected immune cell percentages in mouse epidermis and dermis treated with IMQ or not, Psoriasis is an incurable chronic inflammatory skin disorder. The imiquimod (IMQ)-induced mouse model of psoriasis is the most widely used model for drug discovery and pre-clinical studies of psoriasis. The inflamed and thickened skin frequently compromises the quality of single-cell suspensions generated from IMQ-induced skin lesions, which has an impact on subsequent analyses by flow cytometry. This protocol details the complete procedure for the establishment of a mouse model of psoriasis and flow cytometric detection of immune cells in the inflamed epidermis and dermis.

To investigate the mammographic characteristics in discriminating benign and malignant male breast lesions.Male patients with breast lesions detected by preoperative mammography were enrolled in this study from Jan 2011 to Dec 2018. All lesions were confirmed by biopsy and classified into benign group or malignant group. Imaging features included lesions location, lesion type, lesion density, lesion eccentricity, accompanying signs(calcification, nipple retraction, thickened skin and enlarged lymph nodes) were recorded and analysed by statistical methods. The AUC was calculated to assess their diagnostic performance in distinguishing benign and malignant lesions. This model was further validated by 0.632 bootstrap.A total of 93 men(median age: 60, range 32-81 years) were enrolled, 43 patients in the benign group and 50 patients in the malignant group. In the univariate logistic analysis, age, lesion location, lesion type, lesion density, lesion eccentricity, calcification, nipple retraction and skin thickening were significantly different (p0.05). When the lesion showed a mass in mammography, those with a circumscribed margin were likely malignant (p0.05). In the multivariate logistic analysis, non-retro-areola lesions (OR: 6.900, 95 % CI: 1.413∼33.691, p0.05), eccentric lesions (OR: 14.566, 95 % CI: 2.800∼75.777, p0.05), high-density lesions (OR: 11.052, 95 % CI: 2.235∼54.666, p0.05), calcification (OR: 12.715 95 % CI: 1.316∼122.848, p0.05) and nipple retraction (OR: 24.681, 95 % CI: 2.853∼213.542 p0.05) were associated with breast cancer. Those variables were used to build logistic model and the AUC of the imaging model was 0.904. The imaging model was verified by 0.632 bootstrap resampling, and the AUC after 0.632 bootstrap was 0.892.Mammographic characteristics could contribute to distinguishing malignant and benign male breast lesions, and the imaging model showed excellent diagnostic performance, which may help to guide clinical decision-making.

We are hereby reporting on a woman with type 1 diabetes getting insulin, 4 shots a day, and referring to us for an episode of severe hypoglycemia occurred after vigorously rubbing a lipo-hypertrophy (LH). She had always injected insulin into an abdominal LH area but had never suffered from any hypoglycemic event (Hypo) during the last period. Nevertheless her history included frequent Hypos, mostly mild-to-moderate but sometimes severe and eventually ending into unconsciousness and her glycemic control was poor (HbA1c 8.3%, mean FPG 161 ± 22 mg/dl, mean PPG 218 ± 51 mg/dl, glycemic variability (106 ± 44 mg/dl). In fact, all of a sudden she rubbed vigorously the LH area trying to get rid of the abdominal skin thickening and soon after a severe Hypo occurred causing her to need for emergency medical assistance. When back at home, she corrected her technique and carefully refrained from inject insulin into the LH so that after six months the lesion disappeared, glycemic control improved and no Hypo occurred any more. Based on the recent publication reporting on a woman with a large LH consisting of thickened skin surrounding some fluid containing insulin at concentrations 13 fold those in blood, we hypothesize that such severe depended on massive insulin release from rubbed skin stores into the blood stream.

Background Thickened skin is a major clinical feature in patients with systemic sclerosis (SSc). We investigated changes of skin thickness in patients with SSc using both high frequency ultrasound (HFU) and the modified Rodnan skin score (mRSS) to evaluate the feasibility of application of HFU in skin involvement and the relationship between HFU and clinical profiles. Methods We recruited 31 consecutive patients with SSc and 31 age-matched and sex-matched healthy controls in this prospective, cross-sectional study. Skin thickness was measured by an 18-MHz ultrasonic probe at five different skin sites. Total skin thickness (TST) and skin thickness using categorical mRSS scores were recorded and compared to HFU. The European Scleroderma Trial and Research (EUSTAR) group Disease Activity Index (EUSTAR-DAI) and other clinical manifestations were assessed and analyzed. Results TST in patients with SSc was thicker than in healthy controls (P

A 62 year old man presented with a one year history of asymptomatic hyperpigmentation of the flexural and intertriginous areas, especially in the groin (fig 1). He had thickened skin on his palms, feet, and neck, had lost 15 kg in three years, and had experienced nail dystrophy (melanonychia and onychoatrophy) for two years. He had recently received a diagnosis of unexplained hypothyroidism and hypogonadism. What is the most likely diagnosis? Fig 1 Hyperpigmented, velvety skin lesions in the groin Acanthosis …

An 85-year-old woman presented with decreased visual acuity. MRI of the brain revealed bilateral orbital masses, and FDG-PET/CT demonstrated moderate to intense uptake in the orbital tumors and thickened skin on the left lower leg. Biopsies of the orbital and cutaneous lesions revealed infiltration by T-cell lymphoma, and the presence of human T-cell lymphotropic virus type 1 antigens confirmed the diagnosis of adult T-cell leukemia/lymphoma (ATLL). Although orbital ATLL is rare, the skin is a common site of extranodal involvement of T-cell lymphomas, including ATLL, and FDG uptake by a cutaneous lesion can facilitate early diagnosis.

Papillon-Lefevre syndrome (PLS) is a very rare syndrome of autosomal recessive inheritance characterized by progressive palmar-plantar keratoderma and early onset periodontitis, leading to premature loss of both primary and permanent dentitions and recurrent pyogenic infections. Patient Presented with a chief complaint of thickening of palms and soles extending on to knees and elbows.. On intraoral examination there is loss of both temporary and permanent teeth. Patient had recurrent pyogenic infections involving face and nose leading to nasal destruction. Histopathological examination of the specimen taken from the thickened skin was reported to be consistent with PLS1,2,3

Ichthyosis is a broad and loosely defined group of hereditary and acquired disorders characterized by filaggrin dysfunction and impaired epidermal homeostasis that results in dry, scaly and thickened skin. Individuals with truncation mutations in the profilaggrin gene coding for filaggrin are strongly predisposed to severe forms of ichthyosis. The phenotypical expression of ichthyosis caused by the same genotypical mutation can vary considerably in severity and in regards to how much constricting scar tissue develops. Here, we report a case of digital ichthyosis threatening the neurovascular integrity to the small finger to discuss the importance of early diagnosis and role of Z-plasty flaps in the surgical treatment of constriction band formation.

Should one evaluate the asymptomatic nonspecific hypopigmented interlabial area in a menopausal woman attending a corporate health check clinic? A menopausal woman aged 66 years, a para 2, reported for a voluntary routine health check including gynaecological evaluation. Examination revealed a hypopigmented interlabial area without any itching, itch marks, redness or thickened skin. There was no altered sensation. There were no skin lesions elsewhere on the body nor was any significant lymphadenopathy. Toluidine blue-directed vulvar biopsy was consistent with mycosis fungoides. Gene rearrangement of T cell receptor by PCR and gel electrophoresis suggested clonal nature of T cell lymphoproliferative disorder. Immunohistochemistry markers CD3 and CD4 were positive. Cutaneous T cell lymphomas are aggressive and prone to delayed or misdiagnosis and have a high mortality rate. Malignant lymphomas in the pelvis are rare, and the vulvar primary involvement is only 4% of pelvic lymphomas. Therefore, any vulvar hypopigmented or hypertrophied areas need to be subjected to histopathological evaluation.

Harlequin ichthyosis (HI) is a rare autosomal recessive disorder of cornification in which children are born with an extremely thick stratum corneum that becomes a restrictive circumferential encasement around the orifices, limbs, chest, and abdomen, resulting in limb contractures. We present a neonate diagnosed in utero with HI. The infant was born with encasing bands of thickened skin creating strictures that were causing digital and limb cyanosis (compartment syndrome). We treated the child using a new technique of lysis of the encasing bands that we call linear band incision, using a new escharotomy-like procedure while the infant was undergoing a 3-week course oral acitretin therapy. The technique involved linear incision and lysis of encasements that resulted in reperfusion of the injured limbs and prevention of further digital necrosis. The child is currently a healthy 8-year-old boy with skin manifestations resembling congenital ichthyosiform erythroderma. He has use of all of the limbs that were released in the procedures and is maintained on frequent application of bland emollients. Linear band incision is a potentially life- and limb-saving technique in children with HI.

Acanthosis nigricans (AN) is characterized by dark, coarse and thickened skin with a velvety texture, being symmetrically distributed on the neck, the axillae, antecubital and popliteal fossae, and groin folds, histopathologically characterized by papillomatosis and hyperkeratosis of the skin. A high prevalence of AN has been observed recently. Different varieties of AN include benign, obesity associated, syndromic, malignant, acral, unilateral, medication-induced and mixed AN. Diagnosis is largely clinical with histopathology needed only for confirmation. Other investigations needed are fasting lipoprotein profile, fasting glucose, fasting insulin, hemoglobin and alanine aminotransferase for obesity associated AN and radiological investigations (plain radiography, ultrasonography, magnetic resonance imaging/computerized tomography) for malignancy associated AN. The most common treatment modalities include retinoids and metformin.

Ichthyosis is a cutaneous disorder characterized by excessive amounts of dry thickened skin surface scales. Ocular manifestations of ichthyosis include cicatricial ectropion, which may cause exposure keratoconjunctivitis and rarely corneal perforation. Topical emollients, anti-inflammatory ointments, and systemic retinoids have been used to control the disease process, while surgical correction with donor graft has been reserved for severe cases involving corneal exposure. The authors report a case of a Caucasian male with lamellar ichthyosis with severe bilateral upper and lower eyelid cicatricial ectropion and corneal ulceration requiring surgical correction. Treatment with apremilast, a novel phosphodiesterase-4 inhibitor, for the treatment of a concomitant plaque psoriasis achieved good control of his skin diseases and minimized the recurrence of eyelid ectropion.

An older woman presented with marked periorbital oedema, thickened skin, coarsened facial features, and brittle hair (typical myxoedema appearances) (fig 1); she …

Nuptial pads are patches of thickened skin, associated with sexually dimorphic skin glands, present only in the thumbs and fingers of male anurans, and hence considered dimorphic sexual characters. Despite the morphological description for many species, the evolution and function of nuptial pads are still unclear. In this study, we describe the presence of nuptial-pad–like structures in females of two species of Melanophryniscus and compare their morphology and histology to males' nuptial pads. The epidermal modifications found in females are conical papillary epidermal projections, similar to the structures found in males; however, the density of these projections in males is twice the average found in females. Also, the nuptial-pad–like structure found in females cannot be considered an actual nuptial pad, because there are no specialized skin glands associated with the structure. This study brings the first records of epidermal modification in females of Melanophryniscus and provides the descr...

AbstRA ct Diagnosing rheumatic disease can be challenging because of protean manifestations and unexplained clinical features. We present two cases of multiple myeloma masquerading as rheumatic diseases, and describe how potential misdiagnoses were avoided. The first patient presented with thickened skin, mimicking systemic sclerosis. This was actually multiple myeloma manifesting an extremely rare cutaneous paraneoplastic phenomena; “Scleromyxedema”. The second patient presented with acute monocular blindness and high erythrocyte sedimentation rate (ESR), initially misdiagnosed as giant cell arteritis. However, this was also multiple myeloma with hyperviscosity causing blindness. It is important to consider differentials despite fulfilment of conventional criteria or clinical patterns in diagnosing rheumatic disease.

Diffuse cutaneous mastocytosis is the rarest subtype of mastocytosis among those that affect children. A 7-month-old girl presented at birth dry and thickened skin. On the second day of life, tense blisters appeared on erythrodermic areas and during the next days spread over the face, trunk, and limbs. The skin was bright red, had a "peau d'orange" appearance, and was considerably thickened with numerous translucent and hemorrhagic blisters. A skin biopsy revealed massive infiltration of the dermis with mast cells, leading to the diagnosis of diffuse erythrodermic mastocytosis. Systemic corticosteroids were given along with antihistamines with good results. Despite the progresses in the understanding of pathogenesis, genetics, and diagnostic criteria of mastocytosis, clear and reliable prognostic markers are still lacking, especially in order to predict systemic involvement. not only in diffuse but also in the commoner forms of the disease.

Skin hyperplasia associated with hair follicle abnormality can be seen in many skin diseases caused by gene mutations. Gsdma3 was reported to be a mutation hotpot gene whose mutation contributed to various skin hyperplasia phenotypes in Bsk, Dfl, Rco2, Fgn, Re (den), and Rim3 mice. However, the signaling molecules involved in these skin anomalies due to Gsdma3 mutations have not yet been addressed. In this study, using hematoxylin and eosin staining, we showed that Gsdma3 mutation gave rise to thickened skin and lengthened hair infundibula throughout the hair follicle cycle. Using immunofluoresence staining, we found that Gsdma3 had a spatial expression profile very similar to that of β-catenin in the epidermis and skin appendages. Furthermore, we showed that epidermal β-catenin expression was increased at all postnatal stages in Gsdma3 mutant mice. These results suggest that Gsdma3 may play a role in the proliferation and differentiation of epidermal cells and hair follicles through negatively regulating β-catenin expression.

Mucopolysaccharidoses (MPSs) are a group of inherited lysosomal storage disorders characterized by deficiencies in specific enzymes involved in the catabolism of glycosaminoglycans (GAGs). These deficiencies cause excessive metabolites to accumulate in multiple organs. There are eight different MPS disorders, contributing to the wide variation in clinical presentation. Depending on the severity and subtype of the disease, some children live normal life spans, while others have a more grim prognosis. Children with MPS can present with neurologic, behavioral, skeletal, cardiovascular, gastrointestinal, or respiratory abnormalities. Cutaneous manifestations are mostly nonspecific and can include coarse facial features, thickened skin, and excessive hair growth. More specific skin findings include ivory-colored “pebbly” papules found in Hunter syndrome and extensive dermal melanocytosis found in Hurler and Hunter syndromes. Early diagnosis of MPS disorders is extremely important to minimize the progression of the disease and for early initiation of appropriate treatment.

A 38-year-old woman, a diagnosed case of limited cutaneous systemic sclerosis (lcSSc) presented for a routine transthoracic echocardiography (TTE) examination. Her medical history consisted of Raynaud's phenomenon, coarse and thickened skin on extremities and oesophageal symptoms in the form of dysphagia to both, solids and liquids, heartburn and regurgitation. Her TTE revealed normally functioning ventricles and no evidence of pulmonary artery hypertension. A mass was noticed posteriorly in the space between left atrium and aorta. This mass moved asynchronously with the atria and contained heterogeneous echodensities that appeared to be floating in it (figure 1 and video 1). The …

Background Phymatous rosacea is characterized by thickened skin and irregular surface contours as the result of variable combinations of fibrosis, sebaceous hyperplasia and lymphoedema. Otic phyma is rarely seen and has been rarely reported in the English literature. Methods We present another case of this uncommon condition, frequently misdiagnosed, maybe due to its underrecognition. Results Phymatous rosacea most commonly occurs on the nose, but may also develop on any sebaceous facial region, including the ears. Although it is a benign condition, there are significant morbidities associated with rosacea, and can even result in conductive deafness because of the obstruction of the external auditory canal. Conclusions The knowledge of this entity may be important for clinicians, especially dermatologists, ENT specialists and plastic surgeons, for an appropriate treatment and follow-up.

Background: The prevalence of diabetes in Saudi Arabia is now one of the highest in the world, with the rise in prevalence of Type II diabetes. Patients with diabetes mellitus commonly suffer from a wide variety of cutaneous disorders. Aims: This study estimates the prevalence of skin manifestations in patients with diabetes mellitus, at King Abdulaziz University Hospital. Materials and Methods: Five hundred and fifty-eight patients with the diagnosis of diabetes, attending the dermatologic and diabetic clinic were included in this study. Results: The common skin disorders were: xerosis (74.7%), pruritus (38.2%), diabetic dermopathy (30.1%), finger pebbles (25.6%), and thickened skin (22.2%). Conclusion: Skin manifestations in diabetics are common. High prevalence of xerosis in our diabetic population is significant and further studies are recommended.

a Ophthalmology, b Pediatrics, and c Obstetrics and Gynecology, Oita University Faculty of Medicine, Hasama-machi, Yufu-shi, d Abstract Background: We present two patients who developed severe protrusion of the conjunctiva and chemosis secondary to Harlequin ichthyosis (HI). Case Reports: Case 1 was a male infant diagnosed with HI who had parchment-like appearance and conjunctival protrusion with severe chemosis. Case 2 was a female infant on whom HI had been suspected before birth through ultrasonography. She showed thickened skin over the entire body and conjunctival protrusion with severe chemosis. For both cases, a vitamin A derivative was applied and the hyperkeratotic layer was peeled off every day. Great care was taken to sterilize and moisten the ocular surface. The conjunctival protrusion gradually improved and other systemic conditions were successfully treated. HI is a rare condition, but affected infants are surviving longer than previously and hence guidelines for ocular management are now required. Conclusions: Gentle and patient debridement of the hyperkeratotic skin and moisturizing were important in treating the unusual conjunctival protrusion.

We describe the clinical characteristics of 4 singleton cases, 3 males and 1 female, with Myhre Syndrome (OMIM 139210), who were born to non-consanguineous parents. Three cases had no family history of similarly affected individuals but 1 male's mother had short stature, some facial features suggestive of Myhre syndrome and evidence of skewed X-chromosome inactivation in her blood DNA. Short stature, deafness, learning difficulties, skeletal anomalies and facial dysmorphisms were evident in all cases. Arthralgia and stiff joints with limited movement were also present. The facial appearance, thickened skin, a 'muscular' habitus are memorable features. The female patient was least affected: this patient and one affected male displayed streaky skin with areas of patchy thickening, suggestive of genetic mosaicism. One patient developed sleep apnoea, a restrictive ventilatory defect and died following a choking episode. Another affected male developed recurrent, progressive, proximal, tracheal stenosis requiring partial tracheal resection, laser treatment and eventually tracheotomy. Review of Myhre syndrome patients in the literature and syndromes in the differential diagnosis, suggests heterogeneity in Myhre syndrome and clinical overlap with Laryngotracheal stenosis, Arthropathy, Prognathism and Short stature syndrome. (C) 2011 Elsevier Masson SAS. All rights reserved.

A 55-year-old woman presented with blistering on the back of her hands and shiny, thickened skin in her decolletage. Laboratory examination revealed increased urinary total and high carboxylated porphyrins and homozygosity for mutation C282Y in the HFE gene. Histopathology showed thickened collagen fibers in the presternal region. Based on these findings we made the diagnosis of porphyria cutanea tarda with pseudoscleroderma and hemochromatosis. Pseudoscleroderma is a rare complication of PCT but can also constitute the first cutaneous symptom of the disease, leading the way to diagnosis. Usually, adequate treatment of PCT with normalization of porphyrin values also results in improvement of pseudoscleroderma.

velvety hyperpigmentation in the neck ( fig. 2 ), axillae and the groin. Furthermore, the dorsa of the hands had brown thickened skin with a pebbly appearance ( fig. 3 ) and the palms showed rugose thickening with more pronounced skin markings ( fig. 4 ). His general and systemic clinical examination was otherwise unremarkable. What are the clinical diagnoses and, more importantly, which pulmonary affliction is associated with these conditions? A 70-year-old male patient presented with a 2-week history of a skin eruption involving the face, neck, axillae, groin, palms, and dorsa of the hands. He had no systemic complaints and no significant past medical or surgical history. He was a smoker (30 pack years), and had no specific occupational exposure. On examination he was found to have leonine facies ( fig. 1 ), with coarse facial features and grey velvety plaques on pressure areas of the face. He was also noted to have Received: July 1, 2009 Accepted after revision: August 10, 2009 Published online: October 24, 2009

Nephrogenic systemic fibrosis is a systemic disease that only affects patients with kidney failure. This entity is characterized by red skin plaques that progress over several weeks to thickened skin and may ultimately cause flexion contractures of the joints and limit mobility. Skin biopsy reveals thickened collagen bundles, mucin deposition, and proliferation of spindle cells and elastic fibers, without inflammation. Originally described as nephrogenic fibrosing dermopathy because of its primarily cutaneous manifestations, this disease was renamed nephrogenic systemic fibrosis because of the involvement of several organs. The pathogenesis of the disease is not yet known, but a strong association between the development of nephrogenic systemic fibrosis and exposure to gadolinium-based contrast agents in magnetic resonance imaging has recently been suggested. As a consequence of this association, it is recommended that the use of these contrast agents be avoided in patients with kidney failure when possible. Unfortunately, the only alternatives are often imaging modalities using iodinated radiocontrast agents, which also have adverse effects in these patients. Therefore, each patient should be evaluated individually to ascertain the risk-to-benefit ratio for a given examination.

Infantile systemic hyalinosis (ISH) is a rare, progressive autosomal recessive disease, which is usually fatal by the age of 2 years. Clinical onset typically occurs within the first few weeks of life. The disease is characterized by joint contractures, osteopenia, failure to thrive, gingival hypertrophy, diarrhea, protein-losing enteropathy, and frequent infections. Dermatologic manifestations include thickened skin, hyperpigmentation, perianal nodules, and facial papules. Histopathology shows hyaline deposits in the dermis and visceral organs. We describe a patient with ISH confirmed by clinical and histopathologic findings, as well as DNA sequence analysis, which revealed a novel homozygous T118K mutation in the CMG2 gene.

We report a consanguineous Sudanese family whose two affected sons presented with a lethal disorder characterised by severe neonatal lactic acidosis, hypertonia, microcephaly and intractable seizures. One child had additional unique features of periventricular calcification, abnormal pterins and dry thickened skin.Exome enrichment was performed on pooled genomic libraries from the two affected children and sequenced on an Illumina HiSeq2000. After quality control and variant identification, rare homozygous variants were prioritised. Respiratory chain complex activities were measured and normalised to citrate synthase activity in cultured patient fibroblasts. RMND1 protein levels were analysed by standard Western blotting.Exome sequencing identified a previously reported homozygous missense variant in RMND1 (c.1250GA; p.Arg417Gln), the gene associated with combined oxidation phosphorylation deficiency 11 (COXPD11), as the most likely cause of this disorder. This finding suggests the presence of a mutation hotspot at cDNA position 1250. Patient fibroblasts showed a severe decrease in mitochondrial respiratory chain complex I, III and IV activities and protein expression, albeit with normal RMND1 levels, supporting a generalised disorder of mitochondrial translation caused by loss of function.The current study implicates RMND1 in the development of calcification and dermatological abnormalities, likely due to defective ATP-dependent processes in vascular smooth muscle cells and skin. Review of reported patients with RMND1 mutations shows intra-familial variability and evidence of an evolving phenotype, which may account for the clinical variability. We suggest that COXPD11 should be considered in the differential for patients with calcification and evidence of a mitochondrial disorder.

To the Editor: Infantile systemic hyalinosis (OMIM 236490) is a rare autosomal recessive disorder characterized by deposition of hyaline in skin, gingiva, adrenals, skeletal muscles and gastro intestinal tract [1, 2]. It presents in a new born or in early infancy with painful movements, joint contractures, gingival nodules, progressive skin thickening and hyperpigmented patches over bony prominances [3] and is caused by homozygous or compound heterozygous mutations in ANTXR2 on 4q21, which encodes capillary morphogenesis protein 2(CMG2) [4]. Mutation analysis is essential in confirming the diagnosis and offering prenatal diagnosis. We report a case of 2-mo-old boy with a homozygous mutation in ANTXR2. To our knowledge this is the first mutation proven case being reported from North India. A 2-mo-old boy who was the second child of third degree consanguineous parents had excessive cry during handling noticed since birth. Antenatal period of the mother was uneventful. He also had progressively increasing joint contractures of both elbows, ankles and knees with thick and shiny skin. He did not have chronic diarrhea and was gaining weight adequately. His elder sibling was a 3-y-old girl who was normal. On examination, he was very irritable and cried when touched. He had hyperpigmented macules over dorsum of hands over the knuckles, knees and on both malleoli. Skin was indurated and thickened (Fig. 1). He had contracture of bilateral elbows, knees and ankles. He did not have gingival nodules or perianal papules or tags. His weight was 4 kg, length 52 cm and head circumference 34 cm (Normal for age). He did not have hepatosplenomegaly. Routine hematology and serum chemistry were normal. Radiographs did not show osteopenia or lytic lesions. Mutation analysis of ANTXR2 was done by Sanger sequencing and a homozygous c.1073_1074insC in exon 13 was identified. This mutation is a previously described disease causing mutation. Infantile systemic hyalinosis was first described by Landing and Nadorra in 1986 [1]. Systemic infantile hyalinosis should be suspected in a newborn or infant presenting with excessive cry during handling, skin thickening, hyperpigmented skin over bony prominences and joint contractures [1, 2]. Other features include gingival thickening, pearly white skin papules, perianal fleshy lesions and failure to thrive. Thickened skin can be seen in other conditions like Winchester syndrome, congenital fascial dystrophy, infantile restrictive dermopathy, Farber disease, I cell disease and mucolipidosis III A. The presence of characteristic purplish patches over the malleoli, metacarpophalangeal joints, elbow and spine is a distinctive clinical clue that helps to establish the diagnosis. Till date 25 different mutations in ANTXR2 have been described [5]. Two cases were reported from India previously, but molecular diagnosis was not done. Since it is inherited in an autosomal recessive manner, there is 25 % chance of recurrence in subsequent pregnancies. Hence, clinical suspicion and molecular diagnosis is very essential to provide prenatal diagnosis in subsequent pregnancies. * Shubha R. Phadke shubharaophadke@gmail.com; shubha@sgpgi.ac.in