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Biomedical subjects

M Megahed

Publications and source records attributed to M Megahed.

At least 73 records · Page 4Linked to original sources

Discrete papular mucinosis-a rare subtype of lichen myxoedematosus.

Lichen myxoedematosus is an uncommon and distinct disease entity characterized by cutaneous mucin deposition which, depending on the distribution and overall skin involvement, can be classified into several subtypes. We now describe the case of a discrete papular type of lichen myxoedematosus in a patient without any conspicious laboratory findings including normal thyroid function and the absence of any abnormal immunglobulins.

Diagnosis, Differential↗

Treatment of nonmelanotic hyperpigmentation with the Q-switched ruby laser.

Hyperpigmentation of the skin is often refractory to conventional therapies, but has significant cosmetic implications if located on visible areas. Because laser systems are capable of removing pigment deposits caused by selective photothermolysis, we addressed the issue of whether the Q-switched ruby laser could be a useful alternative in the treatment of nonmelanotic hyperpigmented skin lesions. We report the successful treatment of a patient with hyperpigmentation caused by iatrogenic human herpesvirus 8-associated Kaposi's sarcoma and a patient with hyperpigmentation caused by long-term antimalarial therapy for cutaneous lupus erythematosus. In both patients, clinical lightening of the darkly pigmented lesions was seen after a single treatment, and a significant improvement was observed after 3 laser applications. The patients tolerated the laser therapy well without any short-term side effects and did not experience either scarring or considerable textural skin changes. Histologic examination was performed before and after laser treatment to confirm the reduction of the pigment deposits. Our data indicate that treatment of nonmelanotic skin hyperpigmentation with the Q-switched ruby laser might be a safe and powerful therapeutic method.

Aged↗

[Periorbital edema as the initial symptom of lupus erythematosus profundus. Case report and discussion of the literature].

Periorbital edema may occur initially or in the course of a wide variety of diseases. One of these diseases is lupus panniculitis, a variant of lupus erythematosus, characterized by firm subcutaneous nodules that may ulcerate with subsequent scar formation. We present a case of lupus panniculitis in which the periorbital edema was the initial manifestation. Knowledge about the differential diagnostic possibilities of periorbital edema as well as the different variants of cutaneous lupus erythematosus is important to reach the correct diagnosis.

Diagnosis, Differential↗

Ultraviolet A1 (340-400 nm) phototherapy for cutaneous T-cell lymphoma.

BACKGROUND: The results of a recent study suggested that ultraviolet A1 radiation (UVA1R; 340-400 nm) phototherapy for atopic dermatitis works through induction of apoptosis in skin-infiltrating helper T cells, indicating the possibility that other helper T cell-mediated skin diseases may respond to UVA1R as well. OBJECTIVE: The purpose of this open pilot study was to assess the therapeutic effectiveness of UVA1 phototherapy for cutaneous T-cell lymphoma (CTCL). METHODS: UVA1 phototherapy was used as monotherapy in patients (n = 3) with histologically proven CTCL (stages IA and IB). For daily whole body UVA1 irradiations, either a high-dose (n = 2; 130 J/cm2 UVA1 per exposure) or medium-dose (n = 1; 60 J/cm2 UVA1) regimen was used. Therapeutic effectiveness was assessed clinically and histologically. RESULTS: In each of the 3 patients, skin lesions began to resolve after only a few UVA1 radiation exposures. Complete clearance was observed between 16 and 20 exposures, regardless of whether the high- or medium-dose regimen had been employed. CONCLUSION: These studies suggest that patients with CTCL stages IA and IB can be treated effectively with UVA1 phototherapy.

Aged↗

Multiple basal cell carcinomas associated with hairy cell leukaemia.

We report the case of a caucasian woman who, between the ages of 49 and 51 years, developed multiple (> 20) basal cell carcinomas (BCC). There was no family history of BCC. No abnormalities in the human homologue of the Drosophila segment polarity gene patched (PTCH), glutathione S-transferases T1 and M1, or cytochrome P450 1A1 were detected by polymerase chain reaction (PCR)-based molecular analysis. There was, however, actinic damage of the skin in sun-exposed areas. The patient was diagnosed as having hairy cell leukaemia (HCL) at the age of 51 years, based upon leucocyte morphology as assessed by light and electron microscopy, tartrate-resistant acid leucocyte phosphatase (TRAP) staining, fluorescence activated cell scanning of peripheral blood leucocytes and bone marrow histology. As the leukaemia slowly progressed over a 3-month period, the patient developed four further BCCs. Given that HCL is characterized by a profound defect in T-cell function, it is conceivable that T-cell immune dysregulation can contribute to the pathogenesis of BCC, possibly enhancing the aetiological effect of ultraviolet irradiation.

Basal Cell Carcinoma↗

Polypoid basal cell carcinoma: a new clinicopathological variant.

Basal cell carcinoma (BCC), the most common malignant neoplasm of the skin, has many different clinical and histological appearances. Four patients with a new distinctive form, polypoid BCC, are described. Polypoid BCC is clinically distinguished from other types of BCC by being pedunculated and having a stalk that connects it to the skin surface. Histologically, it is distinctive in that the tumour aggregations are restricted to the exophytic polypoid zone.

Adult↗

Missense mutations in SMOH in sporadic basal cell carcinomas of the skin and primitive neuroectodermal tumors of the central nervous system.

About one-third of sporadic basal cell carcinomas (BCCs) of the skin and 10-15% of primitive neuroectodermal tumors (PNETs) of the central nervous system show mutations in the PTCH tumor suppressor gene. The PTCH gene product (Ptch) functions as a transmembrane receptor for the Sonic hedgehog protein (Shh) and interacts with another transmembrane protein called Smoh. To further elucidate the significance of alterations in the Shh signaling pathway, we investigated 31 sporadic BCCs and 15 PNETs for the mutation and/or expression of SMOH, PTCH, SHH, and GL11. In addition, we fine-mapped the SMOH gene locus by fluorescence in situ hybridization to chromosomal band 7q32. Mutational analysis identified four BCCs with somatic missense mutations in SMOH affecting codon 535 (TGG==>TTG: Trp==>Leu) in three tumors and codon 199 (CGG==>TGG: Arg==>Trp) in one tumor. A missense mutation at codon 533 (AGC==>AAC: Ser==>Asn) was found in one PNET. PTCH mutations were detected in eight BCCs and one PNET. Two BCCs demonstrated mutations in both SMOH and PTCH. The majority of tumors showed an increased expression of SMOH, PTCH, and GL11 transcripts as compared with that of normal skin and nonneoplastic brain tissue, respectively. In contrast, only one BCC and one PNET expressed SHH mRNA at levels detectable by reverse transcription-PCR, and no SHH gene mutations were found. In summary, our results indicate that both PTCH and SMOH represent important targets for genetic alterations in sporadic BCCs and PNETs.

Adolescent↗

Carbon dioxide laser treatment of extramammary Paget's disease guided by photodynamic diagnosis.

Extramammary Paget's disease (EPD) is a rare malignancy occurring mainly in apocrine gland-bearing regions. Surgical excision is the treatment of choice. This may be very difficult or even impossible if the disease is widespread or located in a critical anatomical site. We report on the successful treatment of a 71-year-old man with EPD in the suprapubic region with CO2 laser guided by photodynamic diagnosis.

Aged↗

Pilomatricoma in elderly individuals.

We report on 4 elderly patients aged 54-85 years with histopathologically diagnosed pilomatricoma who had been seen in our department from 1993 to 1997. Pilomatricoma is a rather uncommon neoplasm in middle-aged and old patients. It is much better known in children. Here, we clinically studied these 4 cases of pilomatricoma in elderly patients (above 50 years of age) to show the variety of clinical differential diagnosis and discuss the clinicopathological features. The results of the present study indicate that the differential diagnosis of pilomatricoma should also be considered in elderly individuals.

Adolescent↗

Cloning and chromosomal mapping of mouse ladinin, a novel basement membrane zone component.

Linear IgA disease is characterized by circulating IgA autoantibodies recognizing basement membrane zone components, including an anchoring filament protein, ladinin. In this study, we have cloned the mouse ladinin cDNA, elucidated the intron-exon organization of the corresponding gene (Lad1), and determined its chromosomal assignment. We have also characterized the promoter region of Lad1 and examined its tissue-specific expression. The mouse Lad1 gene consists of 10 exons spanning approximately 13.4 kb of the mouse genome on chromosome 1, and Southern analysis suggested that Lad1 is a single-copy gene. The coding region comprises 1584 nucleotides and encodes a 528-amino-acid polypeptide with a calculated molecular mass of 59 kDa. The deduced polypeptide contained two putative N-glycosylation and two O-glycosylation sites, and sequence analysis predicted a 15-amino-acid signal peptide. The 5' upstream region demonstrated the presence of consensus cis-elements for AP2 and SP1 and was GC rich, consistent with eukaryotic promoter. Northern analysis revealed expression in cultured keratinocytes, but not in fibroblasts, with the mRNA transcript being approximately 2.5 kb in size. A significant level of expression was also noted in the kidney and lung, and to a lesser degree in the liver, spleen, and brain. Ladinin is a novel component of the basement membranes and may function in contributing to the stability of the association of the epithelial layers with the underlying mesenchyme.

Amino Acid Sequence↗

CHILD syndrome in a boy.

CHILD syndrome (congenital hemidysplasia with ichthyosiform nevus and limb defects) occurs, as a rule, exclusively in girls because the underlying X-linked gene exerts a lethal effect on male embryos. In this report the characteristic manifestations of CHILD syndrome are described in a 2-year-old boy with a normal chromosome constitution 46,XY. This exceptional case is best explained by the assumption of an early somatic mutation and thus compatible with the concept of X-linked dominant male-lethal inheritance of this trait.

Child, Preschool↗

[Purpura fulminans with extensive skin necroses].

Purpura fulminans must be treated as an emergency in internal medicine and dermatology. Its characteristic features are the sudden development of progressively enlarging haemorrhagic skin necrosis, severe disseminated intravascular coagulation with consumption of anticoagulant factors, and signs of shock. Purpura fulminans can be classified into a neonatal form with inherited protein C deficiency and an acquired type for which multiple causes are known. Clinically it is characterized by massive ecchymosis with haemorrhagic blebs and acral necrosis. Histologically the lesions show widespread extravasation of erythrocytes and thrombosis of small vessels. Thrombocytopenia, decrease of coagulation factors, the presence of fibrinogen split products and fragmented erythrocytes in the blood smear help to confirm the diagnosis. The therapy includes fresh-frozen plasma, heparin, antibiotics and surgical debridement of necrotic areas. It is important to recognize the disease promptly because the mortality rate is about 30-40% and only quick intervention helps to save the life of the patient.

Aged↗

Brittle and sparse hair with normal cystine content caused by methionine deficiency?

The unusual case of an 8-year-old girl with a hair disorder is presented, characterized by brittle, short and sparse hair. On polarizing microscopy the latter reveals a "tiger tail" pattern, whereas severe cuticular defects are detected on scanning electron microscopy. The patient's hair has a normal cystine content but is completely devoid of methionine and reveals distinct changes of its visoelastic parameters. It is presently unknown whether the lack of methionine may be implicated in the pathogenesis of this hair disorder, which to the best of our knowledge has not been previously described.

Child↗

[Histology of supepidermal bullous dermatoses].

Subepidermal bullous dermatoses are a heterogenous group of disorders characterized by loss of tissue adhesion in the dermoepidermal junction and formation of a vesicle or bulla in the lamina lucida or under the lamina densa. These diseases can be classified into the following: 1. Subepidermal autoimmune bullous dermatoses. These are characterized by circulating autoantibodies against normal constituents of the basement membrane zone and include the following: Epidermolysis bullosa acquisita, bullous pemphigoid, dermatitis herpetiformis Duhring, linear IgA disease, herpes gestationis, cicatricial pemphigoid and bullous systemic lupus erythematosis (SLE). II. Subepidermal bullous dermatoses, due to mutation of the basement membrane zone proteins. These are epidermolysis bullosa junctionalis and epidermolysis bullosa dystrophicans. III. Subepidermal bullous dermatoses due to metabolic disorders: Porphyria cutanea tarda (PCT). IV. Drug induced Lyell-Syndrome Due to space limitation it is not possible to discuss the histology of all these dermatoses. I will therefore choose the most important of them and display their histology in detail.

Dermatitis Herpetiformis↗

[Amelanotic nodular malignant melanoma of the vulva. Case report and review of the literature].

We describe a 55-year-old woman with an amelanotic nodular malignant melanoma of the vulva. The tumour had developed within 3 months. Physical examination showed a solid, erythematous, centrally depressed nodular tumour with a waxy appearance. It was 1.3 cm across and located on the right labium majus. The surface was eroded and showed teleangiectasias. Histopathological examination revealed a nodular malignant melanoma with predominantly spindle-shaped tumour cells, stage IV-V, and 7.2 mm thick. The primary tumour was excised but the patient died of generalized metastases 19 months later. There are very few reports on melanoma of the vulva in the dermatological literature. In addition to this case report we review the literature and discuss the clinical picture, histopathology and prognosis of this melanoma.

Female↗

Schönlein-Henoch purpura associated with gastric Helicobacter pylori infection.

Schönlein-Henoch purpura is characterized by palpable purpura, colicky abdominal pain, gastrointestinal hemorrhage, arthralgias, and renal involvement. Bacterial and viral infections, as well as drugs and diseases associated with immune complexes, are thought to be responsible. We describe the case of a 21-year-old woman with Schönlein-Henoch purpura and chronic active gastritis with erosions. Helicobacter pylori was found in gastric mucosa using the newly introduced, nontoxic, noninvasive 13C-urea breath test; infection was confirmed by gastric mucosal biopsy. After eradication of H. pylori with omeprazole and amoxicillin, the skin changes, gastric complaints, and proteinuria disappeared. Ten months later, Schönlein-Henoch purpura recurred. H. pylori was again detected. After therapy, H. pylori was eradicated and the clinical manifestations faded. To our knowledge, H. pylori has not previously been described as a cause of Schönlein-Henoch purpura.

Adult↗

Ichthyotic and psoriasiform skin lesions along Blaschko's lines in a woman with X-linked dominant chondrodysplasia punctata.

X-linked dominant chondrodysplasia punctata is a rare genodermatosis characterized by transient punctate epiphyseal calcifications and ichthyotic skin changes, usually resolving during early infancy. We describe the case of a 32-year-old woman with ichthyotic skin lesions that developed during early childhood and persisted into adulthood. Psoriasiform skin changes became evident for the first time during adulthood. Both the ichthyotic and psoriasiform skin lesions followed Blaschko's lines. This case is unique because of the coexistence of ichthyotic and psoriasiform skin changes in an adult with X-linked dominant chondrodysplasia punctata.

Adult↗