CYP27B1 Enzyme in Psoriasis: A Preliminary Study of Immunohistochemical Observations.

Connections between vitamin D and psoriasis have been a matter of interest for the past decades, with its active metabolite, 1,25(OH)2 vitamin D, being valued for antiproliferative and immunomodulatory effects. However, none of vitamin D's actions could be possible without the CYP27B1 enzyme that bio-activates this metabolite of interest. In order to see if there is any link between the enzyme expression and the disease's particularities, we conducted a preliminary study that involved 11 skin biopsies of patients with mild (n = 4) or moderate to severe psoriasis (n = 7). The cell proliferation antigen Ki67 and the CD45RO+ marker were also assessed. Compared with healthy skin, in psoriasis, it is reported that the enzyme's expression seems to be more ubiquitous, but a clear correlation between the disease's severity and the CYP27B1 expression was, to our knowledge, lacking. We found that, in patients with very mild psoriasis, the enzyme expression was observed in the epidermal stratum basale in a similar manner as in healthy skin specimens. Contrary, for higher severity scores, a divergent result was observed, with the enzyme being either variably spread in the epidermal stratum spinosum or completely absent. Unlike malignant diseases, a significant connection between CYP27B1 and Ki67 (p = 0.313) or CYP27B1 and CD45RO+ (p = 0.657) does not seem to be relevant in psoriasis.

Osteoarthritis induces gender-related changes in the knee range of motion.

In time, osteoarthritis (OA) generates the misalignment of the affected joint structures. However, due to the nature of bipedal gait, OA in the lower limb can also cause pathological gait patterns, which can generate instability and falls, with great consequence, especially in the aged population. With goniometry used to evaluate the range of motion (ROM) of joints, we wanted to evaluate how gender impacts gait dynamics in OA patients. For this study, we have compared 106 OA patients (74 females and 32 males) to age matched controls. All participants had their right leg as dominant. Video recording of normal gait was analyzed with a digital goniometry tool phone application, and the knee's ROM was measured in midstance and midswing moment of the gait. During midstance, significant extension and flexion of the knee excursion have been observed in both males and females. During midswing, knee OA presents more differences, whereas subjects with hip and knee OA present changes on the dominant knee. Midstance changes suggest that the knee's joint degenerative changes, such as synovitis, can be linked to hip OA secondary changes. Midswing changes in lower limb OA suggest a connection to the activities of daily life. Gender differences generated by OA must furthermore be studied in both lower limbs so that the best therapeutic approach can be chosen.

Technical Performance, Overall Accuracy and Complications of EUS-Guided Interventional Procedures: A Dynamic Landscape.

Endoscopic ultrasound (EUS) gained wide acceptance as the diagnostic and minimally invasive therapeutic approach for intra-luminal and extraluminal gastrointestinal, as well as various non-gastrointestinal lesions. Since its introduction, EUS has undergone substantial technological advances. This multi-centric study is a retrospective analysis of a prospectively maintained database of patients who underwent EUS for the evaluation of lesions located within the gastrointestinal tract and the proximal organs. It aimed to extensively assess in dynamic the dual-center EUS experience over the course of the past 20 years. Hence, we performed a population study and an overall assessment of the EUS procedures. The performance of EUS-FNA/FNB in diagnosing pancreatic neoplasms was evaluated. We also investigated the contribution of associating contrast-enhanced ultrasound imaging (CE-EUS) with EUS-FNA/FNB for differentiating solid pancreatic lesions or cystic pancreatic lesions. A total of 2935 patients undergoing EUS between 2002-2021 were included, out of which 1880 were diagnostic EUS and 1052 EUS-FNA/FNB (80% FNA and 20% FNB). Therapeutic procedures performed included endoscopic transmural drainage of pancreatic fluid collections, celiac plexus block and neurolysis, while diagnostic EUS-like CE-EUS (20%) and real-time elastography (12%) were also conducted. Most complications occurred during the first 7 days after EUS-FNA/FNB or pseudocyst drainage. EUS and the additional tools have high technical success rates and low rates of complications. The EUS methods are safe, cost effective and indispensable for the diagnostic or therapeutic management in gastroenterological everyday practice.

Clinical, histopathological and immunohistochemical study of keratoacanthoma.

Keratoacanthoma (KA) is an epithelial tumor of the skin, classically considered as having a malignant transformation risk of 15%; however, many authors and the new World Health Organization (WHO) Classification of skin tumors consider KA as an incipient variant of the cutaneous squamous cell carcinoma (SCC). The aims of the study were to assess the clinical, histopathological (HP) and immunohistochemical (IHC) aspects of the KA and the role of these factors in malignancy occurrence. The studied group comprises 194 patients diagnosed with KA or malignant KA, hospitalized in the Clinic of Dermatology, Emergency County Hospital, Craiova, Romania, between 2006 and 2019. There were 83 males and 111 females, aged 34 to 90 years, 57.21% of the patients being from the rural environment. The histopathology diagnosed 51 KAs and 143 malignant KAs (SCCs). Clinical diagnosis had a limited value in detecting the absence or presence of malignancy in the KA lesion, due to a low accuracy (36.08% and 29.89%, respectively) and specificity (23.07% and 27.02%, respectively); therefore, the HP exam of the surgical excision specimen has a paramount importance in establishing the diagnosis. IHC analysis revealed that the immunostainings for apoptosis-associated proteins and keratinocyte proliferative activity [p53, B-cell lymphoma-2 (Bcl-2), Ki-67 and proliferating cell nuclear antigen (PCNA)] provide some arguments to differentiate between KA and SCC in the studied cases. The correlation of clinical, HP and IHC data lead to an accurate diagnosis of KA; moreover, the clinical, HP and IHC data sustain the idea that KA is a particular form of well-differentiated SCC, which require an active therapeutic attitude.

Factors predicting occurrence and therapeutic choice in malignant colorectal polyps: a study of 13 years of colonoscopic polypectomy.

Colorectal carcinoma represents a major cause of mortality and 0.2-12% of resected colonic polyps have malignant cells inside. We performed a retrospective study of patients with resected polyps during a period of 13 years. A total of 905 patients had 2033 polyps removed; 122 polyps (109 patients) had malignant cells. Prevalence of malignant polyps with submucosal invasion was 1.23% and for all polyps with malignant cells was 6%; malignant polyps had a larger size (23.44 mm mean diameter) vs benign polyps (9.63 mm); the risk of malignancy was increased in polyps larger than 10 mm, in lateral spreading lesions and in Paris types 0-Ip, 0-Isp, in sigmoid, descending colon and rectum, in sessile serrated adenoma and traditional serrate adenoma subtypes of serrated lesions and in tubulovillous and villous adenoma. In 18 cases surgery was performed, in 62 patients only colonoscopic follow-up was made and in 35 patients no colonoscopic follow-up was recorded. From initially endoscopic resected polyps, recurrence was noted in seven (11.3%) cases; there was a trend toward association with depth of invasion, piecemeal resection, right and rectum location, sessile and lateral spreading type and pathological subtype. In surgical group, post-therapeutic staging was available in 11 cases; nodal involvement was noted in three (27.27%) cases; none had lymphatic or vascular invasion in endoscopically resected polyps. Four patients with no macroscopic local recurrence underwent surgery with no residual tumor. The rate of metastasis was 16.67% in surgical group and 1.61% in endoscopic group. Evaluation of lymph node (LN) invasion was available for 11 operated patients, with LN invasion (N1) in three patients, local residual tumoral tissue in one patient with incomplete resection and no residual tumor (R0 resection) in four patients with endoscopic resection before surgery.

Histopathological and clinical-progressive profile of skin carcinomas: study on 1688 cases.

Skin carcinomas represent 90-95% of skin cancers. With the objective of identifying the histopathological and clinical-progressive profile of skin carcinomas, we undertook a retrospective study over a period of seven years, which included a total of 1688 patients with carcinoma of the skin, hospitalized and treated in Craiova Dermatology Clinic between January 1999 and December 2006. Patient data such as identification data, environment, profession, phototype, location of cancer, history of the disease, clinical diagnosis, histopathological diagnosis and response to treatment were included in clinical charts. Basal cell carcinoma (BCC) was diagnosed in a total of 1162 patients, representing 68.84% of cases taken to the study. The most common clinical forms were: pearly BCC (37.95%), nodular BCC (29%), and superficial BCC (22.03%). Regarding the histological type, the most frequent forms were: BCC polymorphic (29.95%), BCC solid (24.96%), and keratinized BCC (19.97%). Epidermoid carcinoma (EC) was encountered in a total of 482 patients, representing 28.55% of all cases. The most frequent forms were: vegetated ulcerated EC (34.03%), nodular EC (31.33%) and keratosic EC (24.27%). Regarding the degree of differentiation, the situation was as follows: well-differentiated EC (64.94%), medium differentiated (29.88%), poorly differentiated (5.18%). Metatypical carcinoma (MC) was found in 44 patients (2.61%). This type of cancer did not presented clinical particular signs, the diagnosis was strictly pathological.

The utility of p16, E-cadherin and Ki67 in cervical squamous intraepithelial lesions diagnosis.

In this study, we included 26 cases diagnosed as squamous intraepithelial lesions, which were examined histopathologically, and in terms of p16, E-cadherin and Ki67 immunoexpression. In low-grade lesions, p16 expression was limited to one third below the epithelium, E-cadherin has a membranous pattern and Ki67 proliferation index had low values. In high-grade lesions, the p16 diffuse stain was present in two thirds or all epithelium layers, E-cadherin expression became aberrant, with membranous and cytoplasmic pattern and Ki67 proliferation index was high. These biomarkers have proven useful to accurately assess the extent of lesions and to identify lesions with high risk of progression.

CD20cy and CD45RO immunoexpression in early rheumatoid arthritis synovium.

In this paper, we studied 15 cases of early rheumatoid arthritis presenting with inflammatory lesions in different degrees of evolution. We want to highlight B- and T-lymphocytes in synovial tissue collected from patients diagnosed with early rheumatoid arthritis, to establish the pattern of their distribution, possibly in relation to local neovascularisation to determine the role played by these types of cells. The pathological samples were represented by synovial membrane biopsy fragments, which were examined by histopathological and immunohistochemical methods. We noticed a perivascular distribution of lymphocyte infiltrate, up to formation of lymphoid follicles with germinal centers. There is a close interdependence between B- and T-lymphocytes in these lesions, and their presence in the synovial membrane in relation to newly formed blood vessels facilitates their action and their chemical mediators. Studying the interdependence of different types of lymphocytes and their connection with blood vessels may generate new therapeutic targets.

Axillary and perianal leiomyosarcoma: report of two cases.

Soft tissue leiomyosarcoma is a relatively rare malignant tumor. It may be difficult to be distinguished from gastrointestinal stromal tumors and Schwann cell neoplasms. To make a correct identification of soft tissue leiomyosarcoma, immunostaining with several smooth muscle differentiation markers (actin, calponin and desmin), and negative staining results with S100 (to rule out Schwann cell neoplasm), c-kit and CD34 (to rule out gastrointestinal stromal tumors) is needed. Prompt diagnosis and referral are desirable, since the size of the tumor at presentation is a continuous variable for the risk of local recurrence and metastatic disease. Chemosensitivity varies according to the tumor subtype, and the tumor grade, the patient's age, performance status, and the timing of metastatic disease further influence the likelihood of a response and survival. Chemotherapy is palliative for most patients with unresectable or metastatic disease. Ifosfamide and doxorubicin are routinely used in this setting; doxorubicin as a single agent is considered the drug of choice.

Adenoid Cystic Basal Cell Carcinoma Arising in Rhinophyma.

Adenoid cystic is a rare histological subtype of basal cell carcinoma. Basal cell carcinoma (BCC), the most common form of skin cancer is a slow-spreading tumor with local malignancy, with a high cure rate and favorable prognosis when is diagnosed in the early stages. Rhinophyma is one of the four subtypes of rosacea and it is histopathologically characterized by sebaceous glands hypertrophy. Disseminated annular granuloma (GAD) is a rare inflammatory dermatosis with uncertain etiopathogenesis, clinically represented by papules with annular or arciform aspect. UV radiations aggravates rosacea and are involved in the etiopathogenesis of BCC and can have a triggering or an aggravating effect on GAD. The association of adenoid cystic BCC with rhinophyma it is rare and more than that, the presence of both in association with GAD is not described in medical literature. We present the case of a 78-year old male patient, with personal history of prolonged exposure to UV radiations, that was admitted to the Dermatology for 4 nodular tumors, located on the face. The skin of the nose and menton with thickened, hypertrophied, irregular, red appearance and dilated pores. Also, on the upper limbs and trunk, the patient had, erythematous papules with arciform and ring shape with hypopigmented centers. We performed surgical excision of the tumors and biopsied an annular lesion. Microscopic examination showed nodular basal cell carcinoma with areas of adenoid cystic carcinoma and actinic degeneration of collagen and gigantocellular granulomatous inflammation. The skin biopsied from the upper limb showed annular granuloma appearance.

Recurrent partial hydatidiform mole, with a first twin pregnancy, after treatment with clomiphene citrate.

We present a patient, treated for 3 months with clomiphen citrate after 5 years of infertility. This treatment resulted in a twin pregnancy, one degenerated into a partial hydatidiform mole and the other into a very early embryo death. The karyotype was a mosaic one: 63% of metaphases showed triploidy - 69 XXX and 37% diploidy - 46 XX. Despite all medical advice, she returned 8 months later with a new pregnancy, which proved to be a new partial hydatidiform mole, this time a single one. Karyotype was, also, a triploidy - 69 XXX. The genetic map of both genitors was performed, showing no aberrations. Unfortunately, the patient came back, once again, 5 months later, with a new positive pregnancy test. Ultrasonography revealed a new very early embryo death, the histopathological analysis establishing to be a single 'pure' stop in evolution of the pregnancy. As all the three pregnancies obtained after treatment with clomiphene were abnormal, two being partial hydatidiform moles and one being a premature miscarriage, without any genetic aberrations of the genitors, it seems very possible that clomiphene, apart from improving fertility, also increases the risk of abnormal ovum appearance.

Spitz nevus with an uncertain malignant potential.

We present the case of 10-year-old girl who have had from birth a plane tumor, of tan color, 3-4 mm of diameter, localized on the face on the cutaneous part of the superior lip. This tumor has been stabile until 8-year-old. Then, after repeated sunlight exposures, the lesion has become more stark, hemispheric in shape, has increased in size becoming about 5-6 mm, with irregular borders, and after an accidental traumatism it began to bleed. We have performed the electroexcision of the lesion for diagnostic and therapeutic purpose. The histopathologic exam distinguished typical images of Spitz nevus on some of the histological sections but also of melanocytary tumor with uncertain malignant potential on the others where atypical mitoses localized in the deeper component of the tumor are being noticed. The immunohistochemical assessment of the tumoral cells showed positivity for the melanocytic markers HMB45 and Melan A, within junctional intraepidermic nevic cells and in the nevic cells from superficial dermis, and also for CD44 protein (belonging to the adhesion molecules family). However, cyclin D1 was positive in rare nevic cells, and the proliferation rate of the tumor was small, with a proliferation index for Ki67 lesser than 5%. The correlation between histopathological and immunohistochemical data conducive to final diagnosis of Spitz nevus with uncertain malignant potential. The clinical evolution confirmed the histopathological diagnosis by the fact that the patient did not presented clinical signs of local recurrences or metastasis at three years after the excision of the tumor.

SMAD4 and TGFßR2 expression in pancreatic ductal carcinoma.

Pancreatic ductal carcinoma is the most common type of pancreatic cancer, and currently represents the fourth cause of death by cancer, worldwide. Among classical pancreatic markers that ascertain the histopathology, new emerging targets have been proposed for both diagnostic and prognostic purposes. In the present study, utilizing a group of 28 confirmed resected pancreatic ductal carcinomas, we have assessed the immunoexpression and correlation ratios of mothers against decapentaplegic homolog 4 (Drosophila) (SMAD4)∕transforming growth factor beta receptor 2 (TGFßR2), and vimentin∕cluster of differentiation 105 (CD105). SMAD4 showed an overall increase in tumors versus pancreatic control tissue, but a decrease from G1 towards poorly differentiated tumors, while TGFßR2, vimentin and CD105 showed higher expression values in the tumor areas. Vimentin-CD105 colocalization degree decreased in tumor tissues compared to controls, illustrating a desynchronization of these two markers, both of them being negative in the tumor epithelia. Altogether, it is highly plausible that all these key players revolve around the epithelial-to-mesenchymal transition phenomenon, and this itself modulates the clinical outcome of the patient.

Metastasized squamous cell carcinoma developed on lupus vulgaris.

Lupus vulgaris (LV) is the most frequent cutaneous tuberculosis, representing more than 55% of the tuberculoses with this location. Malignization can occur after a long latency (10-30 years), in 1-2% of the cases, and it is mainly in squamous cell carcinoma. The histological exam is highly important in the observation of neoplasic transformations. The authors present a 59-years-old female patient, from the rural environment, working as a farmer, with lupus vulgaris developing since her first childhood years. It started at the age of 2 years, at the right ear lobule, after the empiric perforation for earrings. The evolution was progressive, eccentric, interesting the pinna and the right cheek in the meanwhile. At the first examination, in 2002, a diffuse mass of red-yellowish infiltration was found at the level of the right ear and the right cheek. In the following two years, an ulcero-vegetating tumor developed at the level of the right ear lobule, accompanied by the presence of a right retromandibular adenopathy, of about 1 cm, which was proved by the histopathologic exam to be a squamous cell carcinoma developed from a lupus vulgaris. After scraping out the right retromandibular ganglion, detected by palpation, a histological exam showed ganglion metastasis.

Type Ib indolent mastocytosis with systemic involvement: cutaneous mastocytosis and gastrointestinal involvement at young girl.

A 21-year-old young girl presents with intense abdominal pain, nausea, diarrhea in the context of a cutaneous eruption formed by erythematous and papulous elements with brown violet aspect, very pruriginous, occasioned by the preparation of some fishmeal. Similar eruption debuted from childhood from the age of 4 year became rare with age. Since 3 years, the patient presents more intense digestive manifestation. The therapy with H2 antagonist (loratadine) and a mast cell stabilizer is beneficial over the digestive symptoms and in the same time cancel the pruritus and the erythema of the cutaneous lesions that remain hyperpigmented. The histopathological examination of a cutaneous lesion confirms the diagnosis of mastocytosis and the endoscopic examination discovers a duodenal ulcer and an erosive gastritis. The systemic mastocytosis is a rare disease, often associated with an urticaria pigmentosa, with difficult diagnosis in his absence. That's why, in patients with macular or nodular pigmented cutaneous lesions appeared in infancy and early childhood and which urticate in a characteristic manner when the skin is firmly rubbed, a cutaneous biopsy is necessary.

Vertebral body clinico-morphological features following percutaneous vertebroplasty versus the conservatory approach.

Most percutaneous vertebroplasty procedures are being performed in order to relieve pain in patients with severe osteoporosis and associated stable fractures of one or more vertebral bodies. In addition, vertebroplasty is also recommended for patients suffering from post-traumatic symptoms associated with vertebral fractures, patients with large angiomas positioned inside the vertebral body, with an increased risk for collapse fracture and also patients presenting with pain associated with vertebral body metastatic disease. On another aspect, it is possible that in isolated cases, an orthopedic surgeon confronted with a vertebra plana presentation will recommend bone cement injection into the vertebral bodies adjacent to the fractured one, in order to have a better and more robust substrate for placement of screws or other fixation devices. The aim of our study is to compare results attained by the Department of Interventional Radiology, in performing this procedure, with results attained by following the classical orthopedic treatment procedure, involving non-operative treatment, using medication and bracing varying from simple extension orthoses in order to limit spinal flexion, light bracing for contiguous fractures, presenting either angulation or compression, and for severe cases standard thoracolumbosacral orthoses (TLSOs).

Assessment of hormonal receptor immunoexpression and Her2 status in invasive breast cancer after conservative and radical surgery.

This study was conducted on 300 patients with infiltrative breast carcinoma, of which 112 cases underwent radical mastectomy, and 188 were conservatively operated. Forty-four patients experienced local relapses during the clinical follow-up. The immunohistochemical (IHC) study used the Labeled Streptavidin Biotin (LSAB)∕Horseradish peroxidase (HRP) method, which evaluated the estrogen receptor (ER) and progesterone receptor (PR), as well as human epidermal growth factor receptor 2 (Her2∕neu) expressions in tumor cells. After IHC analysis, all cases were classified into one of the following four immunophenotypes: ER+∕PR+ classical phenotype, ER-∕PR-, ER+∕PR- and ER-∕PR+ phenotypes. Correlating hormonal phenotypes with Her2 status, we found that Her2 is significantly associated more frequently with the ER+/PR- phenotype, while the absence of Her2 was associated more frequently with the ER+/PR+ phenotype but with no significant differences. Local recurrences were significantly more common in patients with absent ERs than those who had these receptors present in the primary tumor. Similarly, mammary tumors with absent PRs recurred significantly more frequently than those with PRs. The positivity of Her2 is significantly associated with the absence of PRs in both type of surgery (conservative or radical). Local recurrences are significantly correlated with both negative receptors phenotype, regardless of the type of surgery. IHC markers, represented by hormone receptors for estrogen and progesterone, and Her2 oncoprotein, can be useful for identifying patients who are at increased risk of local recurrences after conservative or radical surgery for breast cancer.

Assessing tumor angiogenesis in colorectal cancer by quantitative contrast-enhanced endoscopic ultrasound and molecular and immunohistochemical analysis.

BACKGROUND AND OBJECTIVES: Data on contrast-enhanced endoscopic ultrasound (CE-EUS) for colorectal cancer (CRC) evaluation are scarce. Therefore, we aimed to assess the vascular perfusion pattern in CRC by quantitative CE-EUS and compare it to immunohistochemical and genetic markers of angiogenesis. PATIENTS AND METHODS: We performed a retrospective analysis of CE-EUS examinations of 42 CRC patients, before any therapy. CE-EUS movies were processed using a dedicated software. Ten parameters were automatically generated from the time-intensity curve (TIC) analysis: peak enhancement (PE), rise time (RT), mean transit time, time to peak (TTP), wash-in area under the curve (WiAUC), wash-in rate (WiR), wash-in perfusion index (WiPI), wash-out AUC (WoAUC), and wash-in and wash-out AUC (WiWoAUC). The expression levels of the vascular endothelial growth factor receptor 1 (VEGFR1) and VEGFR2 genes were assessed from biopsy samples harvested during colonoscopy. Microvascular density and vascular area were calculated after CD31 and CD105 immunostaining. RESULTS: Forty-two CE-EUS video sequences were analyzed. We found positive correlations between the parameters PE, WiAUC, WiR, WiPI, WoAUC, WiWoAUC, and N staging (Spearman r = 0.437, r = 0.336, r = 0.462, r = 0.437, r = 0.358, and r = 0.378, respectively, P < 0.05), and also between RT and TTP and CD31 vascular area (r = 0.415, and r = 0.421, respectively, P < 0.05). VEGFR1 and VEGFR2 expression did not correlate with any of the TIC parameters. CONCLUSIONS: CE-EUS with TIC analysis enables minimally invasive assessment of CRC angiogenesis and may provide information regarding the lymph nodes invasion. However, further studies are needed for defining its role in the evaluation of CRC patients.

The study of CD20 and CD45.Ro antibodies in the inflammatory infiltrate involved in acne and seborrheic dermatitis.

The aim of our study was to evaluate the role of CD20 and CD45.Ro antibodies in acne and seborrheic dermatitis. A number of 20 patients with papular, pustular or nodular acne and another 20 patients with seborrheic dermatitis were available for our study. We removed bioptic material from all of them and we perform histochemical and immunohistochemical processing within the Laboratory of Histology, Histopathology and Immunohistochemistry of the University of Medicine and Pharmacy of Craiova. In acne, we could reveal a positive CD45.Ro immunomarking in rare lymphoid cells situated in the middle derma at a distance from the affected pilosebaceous follicle and in the inflammatory infiltrate subepidermically, and also a negative immunomarking in the inflammatory cells from the proximity of the affected pilosebaceous follicle. In patients with seborrheic dermatitis we noticed a positive immunomarking infiltrate of the papillary derma and a positive immunomarking of membrane for CD45.Ro in many lymphoid cells of the inflammatory infiltrate situated in the papillary derma predominantly disposed perivasculary. Conclusions. The absence of the cells marked with CD45.Ro in the proximity of the pilosebaceous follicle interested in acne excludes the direct participation of B- and T-lymphocytes in the perifollicular inflammatory process, though the T-lymphocytes can be revealed in a small number at a distance from the affected follicle. The inflammatory infiltrate from the seborrheic dermatitis proved to be rich in positive CD45.Ro cells and poorer in positive CD20 cells.

Darier disease and Hailey-Hailey disease.

Darier disease (DD) and Hailey-Hailey disease (HHD) are autosomal dominantly inherited genodermatosis, caused by mutations in ATP2A2 gene and ATP2C1 respectively. We investigated clinical and laboratory two patients - a men with Darier disease and a woman with Hailey-Hailey disease. The patient with Darier disease has mucosal lesions and dental modifications associated with mild mental retardation. At Hailey-Hailey case, the skin lesions are associated with neuropsychiatric and endocrinologic disorders. In both cases, the mutation is inherited from parents. Even if this diseases have similar features, clinical, genetical and histopathological they are distinct entities.