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At least 19 recordsLinked to original sources
PubMed1978

Hyperpigmentation after bleomycin therapy. Ultrastructural study.

Pigmentation in a Causasian male, resulting from bleomycin therapy for Hodgkin's disease, has been studied ultrastructurally. The melanocytes, though present in normal numbers, showed several abnormalities; the endoplasmic reticulum and the Golgi apparatus were were well developed and the mitochondria were enlarged. Lipid inclusions in the endoplasmic reticulum and numerous autophagocytic vacuoles, some containing lipids were observed. Transfer of melanosomes to keratinocytes appeared to be increased. The melanosomes, which measured less than 0.55 mu were dispersed in the cytoplasm and did not form complexes, as has been observed with nitrogen mustard. The increase of melanocytic activity and the disturbance of melanosome transfer are discussed.

Adult↗
PubMed1975

Leukodystrophy, skin hyperpigmentation, and adrenal atrophy: Siemerling-Creutzfeldt disease. Transmission through several generations in two families.

Two apparently unrelated families with a history of leukodystrophy associated with adrenal insufficiency are presented. Only about 20 cases of this syndrome have been reported until now. It was first described by Siemerling and Creutzfeldt; therefore we propose the designation Siemerling-Creutzfeldt disease. Our pedigrees include 15 additional cases and prove that this disease is inherited as an X-linked or as an autosomal dominant trait with male sex limitation. Within these families, the interindividual variability of clinical signs is remarkable. Patients can survive into the fifth decade, and one has reproduced. Attempts to identify heterozygotes on the basis of endocrinologic investigations were unsuccessful.

Adrenal Cortex Hormones↗
PubMed1979

[Macroscopic and microscopic study of human corpse skin grafting on athymic mice nu/nu].

32 thin grafts (500 to 700 mu) of different human corpse skin set apart during the first 24 hrs after the death have retaken on athymic Mousse whatever the reason of death and the age of the donor. 20 thick grafts have retaken at 30%. These skins preserve the aspects and behaviour of normal human skin but after 1 month they have a heavy melanic hyperpigmentation. These skins preserve their normal histological aspect during the first 3 days, then, when revascularisation is setting in, superficial areas of epidermic mortification, opposite dermal hypovascularised zones, appear. Between the 15th and the 21st day the epidermic alterations disappear and a heavy melanic hyperpigmentation is set up. The revascularisation is certainly the result of the human dermal vessels repermeabilisation. Till the 76th day neither dystrophy, dysplasia nor important inflammatory process exist.

Adult↗
PubMed2026

Costello Syndrome Associated With Somatic Mosaicism of Rare p.Gly13Asp HRAS Variant: Expanding the Phenotypic Spectrum.

BACKGROUND: Costello syndrome (CS) is a rare RASopathy, mostly caused by de novo heterozygous pathogenic variants in the HRAS gene. Over 80% of cases involve the germline p.Gly12Ser variant, resulting in a fairly uniform phenotype of neuro-cardio-facio-cutaneous involvement with an increased risk of malignancy. Consequences of other rare HRAS variants are less well understood due to the limited number of reported cases. METHODS: An adult, young woman was referred due to sparse, slow-growing scalp hair, Blaschko-linear hyperpigmentation, acanthosis nigricans, palmoplantar hyperkeratosis, and joint hyperlaxity. Molecular, imaging, and detailed laboratory studies were performed. RESULTS: Although initial clinical exome- and whole-exome sequencing (WES) were inconclusive, indicating possible mosaicism, subsequent WES from hair-derived DNA samples revealed somatic mosaicism for the rare HRAS p.Gly13Asp variant. Brain MRIs showed a cerebral cavernoma, while cardiological evaluation, urinalysis, abdominal, and pelvic ultrasound were unremarkable. Nevertheless, she remains under close follow-up. CONCLUSION: Among the ten reported individuals carrying the p.Gly13Asp variant, our patient is only the second with confirmed mosaicism and the fifth mosaic CS case described to date. This case expands the phenotypic spectrum of CS and highlights the need for multi-tissue analysis in attenuated or atypical presentations to ensure a correct diagnosis, oncological risk assessment, and informed genetic and reproductive counseling.

Humans↗
PubMed1979

Chronic graft versus host disease: a syndrome of disordered immunity.

A chronic, debilitating syndrome related to graft-versus-host disease (GVHD) has been recognized in long-term survivors following allogeneic bone marrow transplantation. In six of 20 marrow graft recipients who survived for more than one year after receiving a transplant, this complication developed; they were studied to better define the syndrome. There was no association between the sex of either donor or recipient, HLA type, blood group, conditioning regimen or marrow cell dose and subsequent development of chronic GVHD. All six patients had mild to moderate manifestations of acute GVHD following prompt engraftment. Chronic GVHD was characterized in each patient by progression to scleroderma-like skin involvement with hyperkeratosis, reticular hyperpigmentation, atrophy with ulceration and fibrosis with limitation of joint movement. A sicca syndrome was prominent in five patients. Four patients had idiopathic interstitial pneumonitis. Infectious complications were frequent, and DNA viral infections were prominent. Autoimmune hemolytic anemia was present in three patients, and one patient had antinuclear antibody (ANA). A spectrum of immune abnormalities was observed including hypergammaglobulinemia, immunoglobulin M (IgM) paraprotein, elevated circulating immune complexes, plasma cell hyperplasia, lymphocytotoxic antibodies and autoantibodies to autologous or donor lymphocytes. Despite clinical similarity to collagen vascular diseases, none of these patients had anti-DNA antibodies or antibodies to smooth muscle, thyroid or extractable nuclear antigens. In one patient, a skin graft from the marrow donor remained healthy despite progressive involvement in recipient skin, whereas unrelated skin grafts were rejected. Immunosuppressive therapy and plasmapheresis have not been effective. Four patients have died (median survival 458 days from transplantation). Chronic GVHD appears to be a syndrome of disordered immune regulation features of immunodeficiency and autoimmunity.

Adolescent↗
PubMed1979

Posterior pole neovascularization in a patient with hemoglobin SC disease.

A 33-year-old black woman with hemoglobin SC disease and a history of photocoagulation for peripherally located retinal neovascularization had a neovascular frond at the temporal border of her right macula. Multiple zones of black sunburst hyperpigmentation were located nearby. Fluorescein angiography showed that the lesions were closely related to an extensive zone of avascular retina in the posterior pole. The perifoveal vasculature was uninvolved, and the patient was unaware of any visual deficit. Although sickle cell maculopathy is a well-recognized entity, there have been no published reports, to the best of our knowledge, of posterior pole neovascularization in patients with sickle cell hemoglobinopathy. The fluorescein angiographic findings in our case provide further support for the hypothesis that retinal hypoxia is an important stimulus for retinal neovascularization.

Adult↗
PubMed1976

Ectodermal dysplasia, mental retardation, cleft lip/palate and other anomalies in three sibs.

Three females in a sibship of 10 have a syndrome of mental retardation, ectodermal dysplasia, and cleft lip and/or cleft palate. Inconstant features are congenital skin defects, areas of hyperpigmentation, congenital adhesions between the eyelids, cicatricial atrophy of the scalp, abnormal E.E.G., partial anodontia, genital hypoplasia, syndactyly, and delayed skeletal growth and maturation. The mode of inheritance could be either dominant with incomplete penetrance, or autosomal recessive. The disorder has overlapping features with several previously delineated syndromes but in view of certain novel features its relationship to these is uncertain.

Abnormalities, Multiple↗
PubMed1976

Occupational pigmented contact dermatitis from Naphthol AS.

Hyper-pigmentation as a manifestation of contact sensitivity to optical brighteners has previously been reported. In 1973 we observed an epidemic of pigmented contact dermatitis occurring in a textile mill in connection with the manufacture of drill fabrics impregnated with a recently introduced azo dye coupling component Naphthol AS. Of the 53 workers included in the study, 12 presented a spotted pattern of hyperpigmentation mainly affecting the exposed areas, but without pruritus, 18 were pigmented to a lesser degree, and in 21 it was not possible to discern any well-defined discoloration; some of the patients in the last group, however, complained of slight pruritus. The last two patients who were fair-skinned showed a reddish-brown pigmentation and a well pronounced pruritus. Hyper-pigmentation was most pronounced in individuals with dark complexions, whereas fair-skinned patient also showed "classical" eczematous symptoms including pruritus. A field study demonstrated direct exposure to the chemical. All 53 patients were patch-tested with Naphthol AS 5% in water, and 24 were found to be positive. Histological features were melanocyte proliferation, incontinence of pigment, and various degrees of damage to the basal layer.

Anilides↗
PubMed1976

Postadrenalectomy pituitary adenoma (Nelson's syndrome) in childhood: clinical and roentgenologic detection.

Following total adrenalectomy in Cushing's syndrome associated with adrenal hyperplasia, but not with adrenal adenoma or malignancy, elements of the pituitary may be stimulated to grow rapidly and even aggressively. There is strong evidence to support the idea that there is a pre-existing tumor in many, if not all, of these cases. In some, the tumor may be too small to deform the sella turcica. After adrenalectomy, these patients should be observed carefully and frequently for hyperpigmentation, visual field defects, and sella turcica enlargement.

Adenoma↗
PubMed2026

Xp21 contiguous gene deletion syndrome presenting as congenital adrenal hypoplasia: molecular diagnosis and clinical re-evaluation of a pedigree.

OBJECTIVE: To investigate the molecular etiology in a male child clinically suspected of congenital adrenal hyperplasia (CAH) with negative conventional genetic testing, and to elucidate the genetic characteristics of his pedigree. METHODS: Clinical data from the proband and his family members were collected. Molecular diagnostics proceeded sequentially: initial targeted CAH testing (CYP21A2 and POR sequencing/MLPA, plus targeted NR0B1 CNV analysis) was followed by whole-exome sequencing coupled with genome-wide CNV analysis. RESULTS: The proband presented with neonatal cyanosis and hyperpigmentation. Laboratory tests showed markedly elevated ACTH (354.68 pmol/L) and low aldosterone (57.24 pg/mL). Molecular genetic testing identified a hemizygous deletion of approximately 4.44 Mb at Xp21.3-p21.1 (chrX:g.27080000_31520000), encompassing the NR0B1, GK, IL1RAPL1, and DMD genes. CNV-seq confirmed that the mother carried a heterozygous deletion of 4.38 Mb in the same region, while the father and four maternal aunts showed normal genotypes. CONCLUSION: This study ultimately diagnosed the proband with Xp21 contiguous gene deletion syndrome. The adrenal insufficiency resulted from X-linked congenital adrenal hypoplasia (AHC) due to NR0B1 haploinsufficiency, rather than CAH. These findings highlight the considerable clinical overlap between AHC and CAH, indicating that CNV analysis of the Xp21 region should be included in the diagnostic workup for male infants with suspected CAH but negative routine genetic testing. This provides a basis for the precise diagnosis and genetic counseling of such patients.

Humans↗
PubMed2026

A Novel Moisturizer Formulated With Micronized Centella asiatica and Mandelic Acid Improves Mature, Crepey Skin.

BACKGROUND: Dermatoporosis is a condition of fragile, aging skin that manifests as altered pH, wrinkles, laxity, easy bruising, and hyperpigmentation. This study evaluated efficacy, safety, and subject perception after the use of a novel cream, GC (Galderma Laboratories, LP, Fort Worth, TX), on subjects with mature, aging skin. METHODS: A 12-week multicenter, randomized, blinded, in-use study enrolled female and male subjects aged 40 to 60 years of all races, ethnicities, and Fitzpatrick skin types. Subjects were required to have a history of fragile skin and dry, crepey skin on the knees and thighs. GC cream was applied to knee and upper thigh skin twice daily. Assessments included clinical grading, digital photography, bioinstrumentation (skin texture, pH, and heatmap hydration), standard safety assessments, and satisfaction. RESULTS: Use of GC cream for 12 weeks resulted in significant improvements in skin crepiness, photodamage, and firmness, as well as decreased skin pH and early improvements in skin roughness and smoothness from baseline. Corneometer heatmapping documented improved skin hydration over baseline. No adverse events were reported; the GC cream was well tolerated, and subjects reported high satisfaction. CONCLUSION: Twice-daily application of the novel GC skin cream significantly improved the overall skin quality of mature, aging skin, including crepiness, photodamage, firmness, texture, pH, and hydration. GC cream was well tolerated with high subject satisfaction. These data are intended to help guide healthcare providers and patients in choosing an effective moisturizer that was specifically designed for patients with fragile, mature skin.

Humans↗
PubMed1977

Contact dermatitis in black patients.

Black patients readily acquire allergic contact dermatitis from such contactants as paraphenylenediamine, nickel, chromates, and mercaptobenzothiazole. Such dermatitis is often complicated by hyperpigmentation and lichenification unless treated early anf vigorously with systemic corticosteroids. Patch testing is reliable on black skin. In addition, acne veneate (pomade acne, Vaselinoderma), which is characterized by noninflammatory acneiform lesions, is very common in black persons. Finally, the old wives' tale that blacks do not get poison ivy may be laid to rest, along with the popular notion that Indians chewed poison ivy leaves in order to prevent poison ivy dermatitis. Several years ago, I interviewed an Indian Chief on a western reservation and inquired whether, to his knowledge, Indians did ever chew poison ivy leaves. The chief's immediate answer was, "You white men must be crazy to think that we would be that foolish!".

Acne Vulgaris↗
PubMed1978

Acneform lesions in Becker's nevus.

Three cases of Becker's nevus are described in which acneform lesions were confined strictly within the limits of the hyperpigmentation. The combined phenomenon has not been reported previously, and we conceive it to be either a rare variant of the anomaly or a still rarer coincidence of Becker's nevus and nevus comedonicus.

Acne Vulgaris↗
PubMed1979

[Advances in topical therapy of skin diseases (author's transl)].

The anti-inflammatory effect of the new topical corticosteroid fluocortin butyl ester is approximately equal to that of hydrocortisone acetate but it has the advantage that systemic side-effects are lacking. Vitamin A acid and benzoyl peroxide have brought significant advances in the topical treatment of acne. For the treatment of chloasma and other hyperpigmentations the combination of vitamin A acid and hydroquinone with a corticoid is considerably more effective than any of the single components alone. Povidone-iodine with its extraordinarily low sensitization rate has proved useful for external antimicrobial treatment. Extensive or multiple precancerous lesions are effectively treated with 5-fluorouracil. New hair growth can be induced in alopecia areata by the local application of DNCB.

Acne Vulgaris↗
PubMed1979

[Phototoxic reactions to 8-methoxypsoralen as occupational dermatosis].

The case history of a 50-year-old assistant pharmacist, who had been working with 8-methoxypsoralene (8-MOP) without any protection, is discussed. Shortly after this work, he was exposed to sunlight. Within 72 h he developed a typical local reaction with painful erythema and vesiculation on the back of both hands, followed by hyperpigmentation a week later. Light testing on skin dusted with 8-MOP resulted in the same clinical picture. Histopathological examination of a lesion showed the characteristics of a phototoxic dermatitis. Guidelines for the prevention of complications in those who are professionally exposed to 8-MOP are emphasized.

Dermatitis, Contact↗