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Results for “Pigmentation Disorders”

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PubMed2002

Feminizing Sertoli cell tumor associated with Peutz-Jeghers syndrome.

Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder characterized by the association of mucocutaneous pigmentation and multiple gastrointestinal hamartomatous polyps and with an increased risk of developing gonadal sex tumors besides other malignancies. We describe a 7 1/2 year-old boy with PJS and bilateral gynecomastia. He has had buccal pigmentation since 1.5 years and had been operated for rectal polyp excision at 3.5 years. On physical examination, his height was at the 90th percentile, and his height age and bone age were 9 and 10 1/2 years, respectively. Increased melanotic buccal pigmentation of the lips and bilateral gynecomastia were noticed. Both of the testes were firm, non-tender and smooth on the surface, and each measured 8 ml. Hormonal measurements were all in the prepubertal range. Testis ultrasonography showed bilateral hyperechogenic areas within the glands. When he was operated for invagination and an ileum segment full of polyps was resected, bilateral testicular biopsies were also performed. Histopathological evaluation of the testes revealed bilateral multicentric benign Sertoli cell tumors. The aromatase inhibitor testolactone was started to slow skeletal maturation. On the basis of this and previous reports, PJS associated with sex-cord tumors is increasingly recognized in males as well as in females.

Antineoplastic Agents, Hormonal↗
PubMed1993

Brown bowel syndrome: report of two cases.

Brown bowel syndrome is a rare intestinal disorder associated with the deposition of lipofuscin pigment in the smooth muscle cells. We report two such cases presenting with intestinal pseudo-obstruction, abdominal pain, and body weight loss. Both cases had malabsorption and fatty liver. Exploratory laparotomy revealed brownish discoloration of the small bowel wall and enlargement of mesenteric lymph nodes. Light microscopy, autofluorescence and ultrastructure studies confirmed the deposition of lipofuscin pigments in the intestinal muscle cells and reticuloendothelial cells of mesenteric lymph nodes. In addition, the calf muscle biopsy of case 1 displayed myopathy and fatty replacement. Skeletal muscle strength of both patients was partially restored after parenteral and oral vitamin E supplement and other conservative treatment, but gastrointestinal symptoms of both patients continued to deteriorate. Thus, brown bowel syndrome associated with prolonged and severe malnutrition and possibly vitamin E deficiency appears only partially responsive to vitamin E supplementation.

Adult↗
PubMed1982

[Cutaneous pigmentation caused by amiodarone. Optical and ultrastructural study].

Thirteen biopsies from 8 patients with amiodarone-induced skin pigmentation were studied. Light microscopy showed that skin pigmentation of these patients was produced by solar elastosis, increase of melanin and accumulation of the properly called amiodarone pigment in the upper dermis. The degree of solar elastosis and the amount of amiodarone pigment was related to total doses of amiodarone. This pigment was negative for fat stains and positive for Masson-Fontana stain, and had neither birrefringency nor autofluorescence. Ultrastructurally, the granules of amiodarone pigment appeared as membrane-bound granules with a fingerprint-like lamellated structure, which others have related to lipofuscin. We conclude, however, that this pigment may be a metabolite of amiodarone, morphologically and histochemically related to melanin.

Adult↗
PubMed1996

[Amiodarone pigmentation].

Amiodarone can occasionally lead to a slate-coloured pigmentation in chronically UV-expose skin. A 63 year old patient presented with a pruritic bluish-purple pigmentation of the face 2 years after taking 400 mg of amiodarone daily for 2 years. During the 24 months after the dose was reduced to 200 mg daily, the pigmentation remained unchanged. Amiodarone pigmentation is caused by the UV-induced accumulation of lipofuscin in dermal macrophages, depending on both the daily dose and the duration of therapy. In the differential diagnosis, pigmentation caused by other drugs is the main consideration. Cessation of therapy eventually leads to complete normalization of skin colour.

Amiodarone↗
PubMed1979

Ocular abnormalities occurring with vitiligo.

One hundred twelve patients with vitiligo were examined for ocular abnormalities. Discrete areas of depigmentation with associated pigment hyperplasia clinically appearing to involve the choroid and retinal pigment epithelium were observed in 44 patients, and active uveitis was seen in nine patients. The changes observed suggest that the spectrum of diseases that includes Harada's disease and the Vogt-Koyanagi syndrome may be broader than previously appreciated. Patients with these syndromes may represent the most severe examples of vitiligo and uveal inflammation. The occurrence of symptoms of night blindness in 12 patients and a family history of retinitis pigmentosa in two of these may signify a possible malfunction of the retinal pigment epithelium. Further evidence for a pigment epithelium disorder is suggested by the high incidence of an unusually prominent choroidal pattern in these patients.

Adolescent↗
PubMed1992

Chronic actinic dermatitis with vitiligo-like depigmentation.

This report describes two patients suffering from severe chronic actinic dermatitis. Unusual widespread vitiligo-like depigmentation occurred during the course of the disease. The progression of these lesions was triggered by the chronic actinic dermatitis. Loss of pigment and complete absence of tyrosinase positive melanocytes were found in depigmented skin of both cases. Immunohistological investigation of the inflammatory infiltrate in case 2 revealed a predominance of CD-8 positive cytotoxic/-suppressor lymphocytes. Analysing the adjacent pigmented epidermis of progressive depigmenting lesions a dense exocytosis of CD-8 T-cells was notable. This distribution suggests cytotoxic destruction of melanocytes as the cause for the vitiligo-like depigmentation.

Aged↗
PubMed1993

Prenatal diagnosis of genetic skin disease using fetal skin biopsy samples.

BACKGROUND: Understanding normal skin development and identifying markers of genetic skin disease expressed in postnatal skin have permitted the prenatal diagnosis of many severe genodermatoses: bullous diseases, keratinization diseases, pigment cell disorders, and disorders of the epidermal appendages (ectodermal dysplasias). Samples of 16 to 22 weeks' gestation fetal skin obtained by ultrasound-guided biopsy are evaluated using morphologic, immunohistochemical, and biochemical methods. OBSERVATIONS: The 12-year experience in evaluating samples from fetuses at risk of these disorders has allowed us to establish conditions that must be met before the samples are taken and the criteria for recognizing the disorder, to recommend the site(s) for sampling, and to be mindful of pitfalls that may be encountered in interpreting the tissue structure. CONCLUSIONS: Fetal skin biopsy is an important diagnostic tool that has permitted families in which members carry the abnormal gene for one of these severe skin diseases to undertake a pregnancy knowing that the condition of the fetus can be determined. Nonetheless, the ultimate goal is phase out this procedure when linkage of more of these disorders to specific genes is understood, specific mutations are characterized, and probes are available for molecular diagnoses using tissue obtained at earlier fetal ages. Until this is possible, fetal skin biopsy remains an important tool that can be used with reasonably high levels of safety and confidence.

Amniotic Fluid↗
PubMed1985

Cutaneous drug reactions: pathogenesis and clinical classification.

Cutaneous drug reactions may be classified with respect to pathogenesis and clinical morphology. They may be mediated by immunologic and nonimmunologic mechanisms. Immunologic reactions require host immune response and may result from IgE-dependent, immune complex-initiated, cytotoxic, or cellular immune mechanisms. Nonimmunologic reactions may result from nonimmunologic activation of effector pathways, overdosage, cumulative toxicity, side effects, ecologic disturbance, interactions between drugs, metabolic alterations, or exacerbation of preexisting dermatologic conditions. Certain defined, cutaneous, morphologic patterns are frequently associated with cutaneous drug reactions. These include urticaria, photosensitivity eruptions, erythema multiforme, disturbance of pigmentation, morbilliform reactions, fixed drug reactions, erythema nodosum, toxic epidermal necrolysis, lichenoid eruptions, and bullous reactions. In addition, certain drugs cause defined cutaneous syndromes. These include iodides and bromides, hydantoins, corticosteroids, antimalarial agents, gold, cancer chemotherapeutic agents, tetracyclines, thiazides and sulfonamides, nonsteroidal anti-inflammatory agents, and coumarin. The criteria for evaluation of possible drug reactions are presented and reviewed.

Adrenal Cortex Hormones↗
PubMed2006

Analogues of N-hydroxycinnamoylphenalkylamides as inhibitors of human melanocyte-tyrosinase.

Melanin play a major role in human skin protection and their biosynthesis is vital. Due to their color, they contribute to the skin pigmentation. Tyrosinase is a key enzyme involved in the first stage of melanin synthesis, catalyzing the transformation of tyrosine to l-dopaquinone. The aim of the present study was to study molecules able to inhibit melanin synthesis through inhibition of tyrosinase and their potential use in treating pigmentation-related disorders. We targeted amides obtained from coupling p-hydroxycinnamic acid derivatives with phenylalkylamines. The biological activity was evaluated on human melanocytes by an assay which measures tyrosine-catalyzed L-Dopa oxidation. The most active amides were: trans-N-caffeoyltyramine, N-dihydrocaffeoyltyramine, and trans-N-dihydro-p-hydroxycinnamoyltyramine which induce complete inhibition at 0.1mM. At the latter concentration, kojic acid, which was used as the reference inhibitor, was inactive.

Amides↗
PubMed1989

Photosensitivity and hyperpigmentation in amiodarone-treated patients: incidence, time course, and recovery.

Amiodarone (AD) induces photosensitivity in 75% of the patients treated with this drug. Phototoxic reactions can be experimentally elicited with UVA but not with UVB. The UVA-MED is significantly reduced after 12 months of treatment. The development of photosensitivity depends on the total dose of AD; 40 g is the minimal cumulative dose requirement. Under the regimens commonly used, photosensitivity can be expected after 4 months of continuous AD treatment and appears to be unrelated to the skin type. Photosensitivity gradually decreases and returns to normal between 4 and 12 months after the withdrawal of AD. AD-related hyperpigmentation develops after an average of 20 months of continuous AD treatment and a minimal total dose of 160 g AD in about 8% of the patients (mainly of skin type I). Electron microscopic examination of the sun-exposed skin of patients without AD discoloration shows pigment deposits similar to those already described in patients with AD hyperpigmentation in exposed and non-exposed skin. Light and electronmicroscopic examination of sun-exposed skin of both clinically photosensitive and non-photosensitive patients reveals perivascular inflammation even in the absence of a clinical rash. Reduplications of vascular basal laminae occur in sun-exposed skin of both patients with and without UVA photosensitivity but are absent from non-exposed skin. In one patient, followed for 33 months after drug withdrawal, massive AD-induced hyperpigmentation was found to be reversible.

Amiodarone↗
PubMed1985

[Actinic reticuloid and pigmented exuberant conjunctivitis. Report of case].

The authors report the case of a patient showing simultaneously actinic reticuloid (AR) and pigmented exuberant conjunctivitis (PEC), which are frequently encountered separately in the highlands of Bolivia. This pathological association could be in favour of the actinic origin of PEC, whereas for RA this origin is quite obvious. The main characteristics of PEC are described, insisting on differentiation with spring conjunctivitis. As a consequence of this association and the observation of other similar cases of PEC in the course of other photodermatoses, the authors are led to consider PEC as the only extra-cutaneous alteration up to now, and one more feature in the clinical picture of photodermatoses of altitude.

Altitude↗
PubMedDate not supplied

[Evaluation of clinical symptoms of Addison's disease].

A total of 103 patients with Addison's disease were examined. The task was to determine the information content of the clinical symptoms of Addison's disease in their interrelationship. The theorem of the multiplication of probability of independent events and probability of the appearance of at least one event were used. On the basis of the above mathematical method it has been established that the most informative syndromes of Addison's disease are the combination of asthenia and adynamia with mass deficiency, arterial hypotension, skin pigmentation and nervous-psychic break-down. In comparing clinical and mathematical results it has been shown that a simultaneous appearance of the signs of the dyspeptic syndrome, its combinations with the pain abdominal syndrome and mass deficiency point out to a possibility of the Addisonian crisis or the onset of its development. At least one of three signs of muscular or articular involvement is predicted in each patient with Addison's disease. A table given in the paper makes it possible to determine the information content of numerous complexes of symptoms of Addison's disease.

Addison Disease↗