Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0851184 (thinning)
 11,252 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A previously unrecognized autosomal dominant syndrome affecting oral, nasal, vaginal, urethral, anal, bladder, and conjunctival mucosa with cataracts, follicular keratosis, nonscarring alopecia, and terminal lung disease is described in a four-generation kindred of German extraction. Severe photophobia, tearing, and nystagmus in infancy heralds the development of keratitis, corneal vascularization, and lens cataracts. Repeated corneal transplants have failed. Red, periorificial mucosal lesions involving the above structures are noted by 1 year of age and may persist throughout life. Chronic rhinorrhea and repeated upper respiratory infections frequently progress to bilateral pneumonia accompanied by loss of hair, diarrhea, occasional melena, enuresis, pyuria, and hematuria. Spontaneous pneumothorax is frequent, terminating in fibrocystic-type lung disease and cor pulmonale. Women have had repeated abnormal vaginal PAP smears. Histologically the mucosal epithelium shows dyshesion, thinning of the epithelial layer, and dyskeratosis. Mucosal PAP smears show lack of epithelial maturation, cytoplasmic vacuoles and inclusions, and individual cell dyskeratosis. Histochemically there is a lack of cornification and keratinization. Ultrastructural studies show lack of keratohyalin granules, a paucity of desmosomes, intercellular accumulations, cytoplasmic vacuolization, and formation of bands and aggregates of filamentous fibers and structures in the cytoplasm resembling desmosomes and gap junctions. The condition is probably a panepithelial cell defect of desmosomal and gap junction structure most prominently affecting mucosal epithelia associated with an increased susceptibility to a variety of adventitious organisms.
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PMID:Hereditary mucoepithelial dysplasia: a disease apparently of desmosome and gap junction formation. 48 50

The experiments on rats kept for 1, 2, 3 and 4 months in phosphorous-producing workshops revealed the influence of elementary phosphorous and its nonorganic derivatives on the mouth mucosa tissues. At the early stages of the experiments the above agents caused the increase in the number of the epithelial layer cell elements, and strengthening of the keratosis process, leading to the development of hyperkeratosis. By the end of the experiment the development of dystrophic and atrophic processes in the epithelium were observed, which sometimes caused thinning of the epithelial layer. The connective tissue of submucous basis was characterized by microcirculation disorders and dystrophic disturbances of blood vessel walls becoming more pronounced by the end of the experiment.
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PMID:[Morphology of the oral mucosa in rats exposed to increased phosphorus levels]. 394 6

The epidermis, our first line of defense from ultraviolet (UV) light, bears the majority of photodamage, which results in skin thinning, wrinkling, keratosis, and malignancy. Hypothesizing that skin has specific mechanisms to protect itself and the organism from UV damage, we used DNA arrays to follow UV-caused gene expression changes in epidermal keratinocytes. Of the 6,800 genes examined, UV regulates the expression of at least 198. Three waves of changes in gene expression can be distinguished, 0.5-2, 4-8, and 16-24 h after illumination. The first contains transcription factors, signal transducing, and cytoskeletal proteins that change cell phenotype from a normal, fast-growing cell to an activated, paused cell. The second contains secreted growth factors, cytokines, and chemokines; keratinocytes, having changed their own physiology, alert the surrounding tissues to the UV damage. The third wave contains components of the cornified envelope, as keratinocytes enhance the epidermal protective covering and, simultaneously, terminally differentiate and die, removing a carcinogenic threat. UV also induces the expression of mitochondrial proteins that provide additional energy, and the enzymes that synthesize raw materials for DNA repair. Using a novel skin organ culture model, we demonstrated that the UV-induced changes detected in keratinocyte cultures also occur in human epidermis in vivo.
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PMID:Rays and arrays: the transcriptional program in the response of human epidermal keratinocytes to UVB illumination. 1164 Dec 60

A 4-year-old boy presented with mildly itchy, linear, skin lesions over the trunk, arms, and face of 3 months' duration. He had previously been admitted to a private hospital for generalized exfoliation of the skin following drug intake for fever and throat pain. The nature of the drugs was not known. The exfoliative dermatitis was treated with oral prednisolone, 10 mg daily, tapered over 3 weeks. No further topical or oral medication was given. The present skin lesions started 1 month after the cessation of the steroids. There was no family history of skin lesions, voice changes, or systemic complaints. Cutaneous examination showed multiple violaceous, linear, reticulate ridges with adherent scaling over the chest, back, and neck. There were scaly, flat-topped papules over the extensor aspects of both upper arms and the buttocks, and scaly plaques over the cheeks (Figs 1a-d and 2a,b). The scalp showed diffuse greasy scaling. There were no oral, genital, axillary, or eye lesions. The nails were normal. Systemic examination did not reveal any abnormal finding. Routine hematologic investigations, liver and kidney function tests, tests for hepatitis B and C, and enzyme-linked immunosorbent assay (ELISA) for HIV were normal. Histopathology from skin lesions on the back revealed hyperkeratosis, patchy parakeratosis, follicular plugging, alternating irregular acanthosis and epidermal thinning, basal cell degeneration, and a band-like inflammatory infiltrate of lymphocytes, histiocytes, and a few plasma cells (Fig. 3). Based on the classical clinical features and histopathology, keratosis lichenoides chronica was diagnosed, and topical 1% hydrocortisone acetate cream, twice daily, was prescribed. There was slight relief of pruritus at a follow-up visit after 3 weeks; however, the patient was subsequently lost to follow-up.
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PMID:Keratosis lichenoides chronica in an Indian child following erythroderma. 1831

Psoriasiform keratosis is a recently reported unique clinicopathological entity characterized by the appearance of a solitary lesion mimicking seborrheic keratosis, actinic keratosis, or squamous cell carcinoma and histopathologic features closely resembling psoriasis. We report a 74-year-old woman presenting with a solitary, scaly lesion on the dorsum of the left arm of several months duration and histopathologic findings of psoriasiform acanthosis of the epidermis with thinning of the suprapapillary plates and intraepidermal spongiform neutrophilic pustules, consistent with a diagnosis of psoriasiform keratosis. On additional work-up investigation, human papilloma virus type 6 was detected in the tissue examined by polymerase chain reaction technique, an association not described before.
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PMID:Identification of human papilloma virus type 6 in psoriasiform keratosis. 2044 38

Monilethrix is a heritable hair shaft defect characterized by localized or diffuse alopecia resulting from hair fragility over friction areas, predominantly the temporal and occipital regions, and follicular keratosis over the occipital region. However, it lacks macroscopic features that enable easy and rapid diagnosis in medical practice. Hair shaft microscopy is the basis for diagnosing monilethrix. We present a report of two Indian male siblings aged 24 and 21, who presented with thinning and hair loss from the scalp in male pattern distribution and multiple skin-colored follicular papules over the nape of the neck and bilateral forearms since childhood. Trichoscopy of scalp hair revealed characteristic uniform elliptical nodes and intermittent constrictions along with variation in hair shaft diameter, presence of few vellus hair and yellow dots, suggesting a diagnosis of monilethrix with early-onset androgenetic alopecia. Dermoscopy of the papules revealed multiple stubs of broken hair arising from them with a similar beaded appearance, suggesting a diagnosis of monilethrix. The diagnosis of monilethrix was confirmed with light microscopy and hair clipping. This report highlights the patterned distribution of hair loss in monilethrix probably due to the early unmasking of androgenetic alopecia and the use of trichoscopy as the diagnostic modality.
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PMID:Monilethrix in pattern distribution in siblings: diagnosis by trichoscopy. 2118 29

Longitudinal erythronychia is a linear red band on the nail plate that originates at the proximal nail fold, traverses the lunula, and extends to the free edge of the nail plate. Longitudinal erythronychia is classified based upon the number of nails affected and the number of red streaks present on each nail as follows: type Ia (monodactylous - single band), type Ib (monodactylous - bifid bands), type IIa (polydactylous - single band), and type IIb (polydactylous - multiple bands). Associated morphologic findings that can be present at the distal tip of the nail with longitudinal erythronychia include fragility, onycholysis, splinter hemorrhage, splitting, subungual keratosis, thinning, and V-shaped nick. Some patients with longitudinal erythronychia seek medical evaluation because of pain in the associated distal digit; however, the linear red nail plate dyschromia is often asymptomatic and the individual is concerned about the cosmetic appearance or distal nail fragility. Longitudinal erythronychia can be a clinical manifestation of an underlying local or systemic condition. Benign tumors (glomus tumor, onychopapilloma, and warty dyskeratoma), malignant neoplasms (malignant melanoma and squamous cell carcinoma), and other conditions (hemiplegia and postsurgical scar) can be associated with monodactylous longitudinal erythronychia or it may be idiopathic or the initial stage of polydactylous longitudinal erythronychia-associated systemic conditions. Polydactylous longitudinal erythronychia is most commonly reported in patients with Darier disease (keratosis follicularis); other associated conditions include acantholytic dyskeratotic epidermal nevus, acantholytic epidermolysis bullosa, acrokeratosis verruciformis of Hopf, amyloidosis, graft-versus-host disease, lichen planus, and pseudobulbar syndrome. Polydactylous longitudinal erythronychia has also been observed as an idiopathic finding. Biopsy of the nail matrix and nail bed may be necessary to establish the diagnosis of a longitudinal erythronychia-associated condition. Indeed, a biopsy should be seriously considered in patients aged more than 50 years who present with a monodactylous longitudinal red band to exclude squamous cell carcinoma. Treatment of longitudinal erythronychia depends on the etiology. For patients with longitudinal erythronychia-associated discomfort or severe nail splitting, a surgical excision may provide not only the underlying diagnosis of the nail dyschromia, but also relief of related symptoms.
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PMID:Longitudinal erythronychia: individual or multiple linear red bands of the nail plate: a review of clinical features and associated conditions. 2166 31

Dermoid cysts occur in the maxillary sinus mucosa were rare. Patient's CT showed: maxillary sinuses Sinus cavity expansion, sinus wall thinning. The inside of the sinus wall disappeared, the maxillary sinus filled with soft tissue mass shadow. Bacterial culture: Staphylococcus aureus. Pathological report: a very small a mount of scattered broken squamous epithelium and keratosis, no atypia cells. Lesions consistent with epidermoid cyst. Patients with epidermoid cysts, formated probably in the process of embryonic development, the reasons of rapid growth may be considered for inflammatory stimulation.
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PMID:[Right maxillary sinus epidermoid cyst huge: report of 1 case]. 2532 19

A 37-year-old woman attended the dermatology outpatient clinic because of recent hair loss from the eyebrows and axillae. Her past medical history revealed mild generalized erythema and hyperpigmented papules and plaques since childhood. On dermatologic examination, there were flat-topped, purple to brown hyperkeratotic lichenoid papules and linear plaques on the elbows, trunk, and buttocks, some of which coalesced into hyperpigmented reticular plaques on the axillae, neck, and groin. Mild erythema was noted. There was thinning and loss of hair of the eyebrows; severe loss of hair was noted in the axillae and genital regions (Figure 1). One of the lichenoid papules was biopsied. The specimen showed histopathologic findings of focal parakeratosis, irregular acanthosis, an increased granular layer, and focal vacuolar degeneration of the basal layer. Necrotic keratinocytes were also observed. Hyalinization and abundant melanin in the papillary dermis and marked congestion of blood vessels were noted (Figure 2). Clinicopathologic correlation of the case was consistent with keratosis lichenoides chronica (KLC).
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PMID:Childhood-Onset Keratosis Lichenoides Chronica Accompanied by Severe Hair Loss. 2870 85

Tyrosine kinase enzymes are an attractive target for anticancer therapies. Tyrosine kinase inhibitors (TKI) are well tolerated; somehow severe systemic side effects are rarely seen during treatment. Toxicities of skin and appendages may lead to poor compliance, psychosocial inconvenience, and drug interruption. Changes of the hair can arise following cures with TKI. Nilotinib, a second-generation TKI, has been responsible for various cutaneous side effects including different clinical presentations of alopecia (scarring and nonscarring forms). This paper reports the case of a 45-year-old male diagnosed with chronic myelogenous leukemia (CML) treated with nilotinib, who presented with a keratosis pilaris (KP)-like eruption, autoresolutive alopecia areata plaque of the wrist and diffuse eyebrow thinning. To date, eight cases of nilotinib-induced KP were reported. However, none of them was associated with alopecia areata. Hence, physicians need to be aware of this new cutaneous side effect and investigating the reason of this phenomenon requires additional studies.
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PMID:Nilotinib-induced Keratosis Pilaris Associated with Alopecia Areata and Eyebrow Thinning. 2883 96


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