SEARCH · Search PubMed

Results for “Pigmentation Disorders”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

SourceResearch connectionFrom yearThrough year

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 1,693 records · Page 94Linked to original sources

PubMed2004

Mutation of perinatal myosin heavy chain associated with a Carney complex variant.

BACKGROUND: Familial cardiac myxomas occur in the hereditary syndrome Carney complex. Although PRKAR1A mutations can cause the Carney complex, the disorder is genetically heterogeneous. To identify the cause of a Carney complex variant associated with distal arthrogryposis (the trismus-pseudocamptodactyly syndrome), we performed clinical and genetic studies. METHODS: A large family with familial cardiac myxomas and the trismus-pseudocamptodactyly syndrome (Family 1) was identified and clinically evaluated along with two families with trismus and pseudocamptodactyly. Genetic linkage analyses were performed with the use of microsatellite polymorphisms to determine a locus for this Carney complex variant. Positional cloning and mutational analyses of candidate genes were performed to identify the genetic cause of disease in the family with the Carney complex as well as in the families with the trismus-pseudocamptodactyly syndrome. RESULTS: Clinical evaluations demonstrated that the Carney complex cosegregated with the trismus-pseudocamptodactyly syndrome in Family 1, and genetic analyses demonstrated linkage of the disease to chromosome 17p12-p13.1 (maximum multipoint lod score, 4.39). Sequence analysis revealed a missense mutation (Arg674Gln) in the perinatal myosin heavy-chain gene (MYH8). The same mutation was also found in the two families with the trismus-pseudocamptodactyly syndrome. Arg674 is highly conserved evolutionarily, localizes to the actin-binding domain of the perinatal myosin head, and is close to the ATP-binding site. We identified nonsynonymous MYH8 polymorphisms in patients with cardiac myxoma syndromes but without arthrogryposis. CONCLUSIONS: We describe a novel heart-hand syndrome involving familial cardiac myxomas and distal arthrogryposis and demonstrate that these disorders are caused by a founder mutation in the MYH8 gene. Our findings demonstrate novel roles for perinatal myosin in both the development of skeletal muscle and cardiac tumorigenesis.

Arthrogryposis↗

PubMed1977

Dermatoses: common in blacks.

Some skin disorders are more common in blacks than in whites or are so rare in whites as to be almost peculiar to blacks. Pigmentary abnormalities, either dark or light spots, often occur in association with inflammatory skin diseases. Curvature of the hair follicle is thought to be at the root of two other painful conditions, pseudofolliculitis of the beard and keloidal folliculitis. Certain hairstyles and treatments are damaging and can even cause alopecia if continued.

Acne Keloid↗

PubMed1977

[Kearns syndrome. Progressive external ophthalmoplegia, retinal pigment degeneration and heart conduction disorders].

Two patients aged 17 and 25 years with Kearns syndrome are described. This condition is characterized by the triad of chronic progressive external ophthalmoplegia, pigmentary degeneration of of the retina and cardiac conduction defects. A review of the literature reveals frequent association with other symptoms, mainly cerebellar ataxia, neurosensory hearing loss, small stature, muscle weakness, mental retardation or dementia and endocrine disturbances. In skeletal and extraocular muscle biopsies, abnormalities of mitochondria, at present of unknown significance, have been found. CSF protein is almost always increased. The etiology of this multisystem disorder remains obscure. The 58 published cases have been sporadic, with no evidence of hereditary transmission. The prognosis seems mainly to depend on the progressive cardiac conduction defects, since several patients have already died in the second or third decade due to heart block. Patients with progressive external ophthalmoplegia should be investigated for Kearns syndrome. If appropriate, implantation of a cardiac pacemaker should be considered.

Adolescent↗

PubMed1979

Osteopathia striata and focal dermal hypoplasia.

A 43-year old female, presenting with pain in the left knee, attributed to a stress fracture of the tibia, was found to have osteopathia striata and numerous other congenital anomalies, not only of the skeleton, but also of other tissue systems. Of the latter the most important was the presence of focal dermal hypoplasia, a disorder of the skin. Review of the radiological and dermatological literature has shown this to be the fourteenth case in which these excessively rare entities have been associated. Such an association is considered to be more than a coincidence. A radiological diagnosis of osteopathia striata, therefore, should be followed by a careful dermatological examination for focal dermal hypoplasia. Conversely, diagnosis of this rare dermatological disease should indicate the necessity for radiological survey of the skeleton.

Abnormalities, Multiple↗

PubMed1987

Single maxillary central incisor and coloboma in hypomelanosis of Ito.

Incontinentia Pigmenti Achromians is a neurocutaneous disorder of uncertain etiology that has been associated with other systemic manifestations including ophthalmologic, musculoskeletal, neurologic and dental abnormalities. Chromosome abnormalities have been documented in some cases but may be coincidental. We describe a 16-month-old black female with an iris coloboma and single central deciduous maxillary incisor in addition to the hypopigmented skin lesions of hypomelanosis of Ito. The combination has not been previously described.

Chromosome Banding↗

PubMed1997

Yellow nail syndrome in infancy.

This report describes an infant with clinical features consistent with the yellow nail syndrome (YNS), a rare autosomal dominant disorder. He presented at birth with congenital lymphoedema and was referred at 6 months of age for investigation of recurrent cough and wheeze. He had clinical and radiological evidence of bilateral pleural effusions and a pericardial effusion. Following a lung biopsy and pericardial window these were shown to be manifestations of his lymphatic abnormality. He also had persisting middle ear effusions causing conductive deafness requiring hearing aids and secondary immunodeficiency requiring regular immunoglobulin infusions.

Humans↗

PubMed1997

Primary localized cutaneous amyloidosis: a clinicopathologic study from Saudi Arabia.

BACKGROUND: Primary localized cutaneous amyloidosis (PLCA) refers to deposition of amyloid in apparently previously normal skin with no evidence of deposits in internal organs. Certain ethnic groups are particularly predisposed. The objective of this study was to investigate the occurrence of PLCA in a hospital-based set-up and to review the clinico-pathologic findings of histologically confirmed cases. METHODS: Methods included a retrospective evaluation of the records and paraffin sections of skin biopsies of all patients, diagnosed clinically as cutaneous amyloidosis in a tertiary care teaching hospital during the period 1987-95. RESULTS: Twenty-one out of 42 suspected cases were histologically confirmed as PLCA; the total number of biopsied patients during the whole period was 920. Eleven were cases of lichen amyloidosis (LA) and 10 were of macular amyloidosis (MA). All were adults, and women dominated in MA. The mean duration of symptoms was shorter for the latter subtype. Histologically epidermal changes were the main differentiating feature between LA and MA. CONCLUSIONS: PLCA is a rare chronic progressive skin disorder affecting adults, with a prevalence of 0.15 among patients attending the dermatology clinic in a tertiary care teaching hospital in Saudi Arabia. There were few differences in demographic profile or histochemical characteristics between LA and MA. Meticulous histologic examination of sections and even sequential biopsies may be needed to confirm the diagnosis in clinically suspected cases.

Adolescent↗

PubMed2005

Skin diseases in south-east Nigeria: a current perspective.

BACKGROUND AND OBJECTIVE: The incidence of skin diseases in south-east Nigeria during the present decade was analyzed and compared with results from other parts of Nigeria, particularly those in the same zone, obtained more than 30 years ago. This study was carried out to update the recent clinical picture of skin diseases in our environment in view of the rapid development, urbanization and advances in the region. PATIENTS AND METHODS: Consecutive new patients seen at the dermatology clinic of the University of Nigeria, Teaching Hospital, Enugu, Nigeria, from February 1999 to March 2001 were included in this prospective study. Only cases seen and examined by the author were included in this study to ensure uniformity of diagnosis. RESULTS: A total of 2871 patients were observed within the study period. Adults accounted for 69.7% and were aged between 18 and 73 years, while the male:female ratio was 1.3:1. Allergic skin diseases (24.9%) were the commonest skin disorders identified, as opposed to infestations which accounted for an extremely high result of 33.7% (for the same region between 1968 and 1971). In second place was infections/infestations (19.1%). A reversal of picture was thus observed. Within the allergic disorders; eczemas/dermatitis were found to be the most prevalent followed by follicular (13.7%) and pigmentary disorders (11.1%). Sexually transmitted diseases and HIV/AIDs have increased significantly and accounted for 5.4%. Blistering diseases (1.1%) and malignancies (0.5%) occurred less frequently, similar to results found in recent decades for the same region. CONCLUSION: The current picture of skin diseases in south-east Nigeria has changed significantly from mere infections to allergic skin, follicular and pigmentary disorders. Cutaneous lesions secondary to STDs and HIV/AIDs have also increased. Skin lesions related to malnutrition, kwashiorkor and starvation were not observed nor were cutaneous tuberculosis, yaws or pediculosis, while blistering disorders and malignancies remained almost the same. The current picture is similar to that in other developing and Afro-Caribbean countries. Primary-care physicians and health-care providers in Nigeria/Africa need to be aware of the globally changing pattern of skin diseases in the region to enable the allocation of necessary resources (financial, material and human) to manage these skin diseases.

Acneiform Eruptions↗

PubMed1989

The recognition and management of albinism.

Albinism is not a single entity but represents a heterogenous group of inherited disorders of pigmentation. Despite a wide variety of manifestations, all forms of albinism are characterized by several ocular features, including: nystagmus, photophobia, reduced visual acuity and a lack of stereopsis. It is the intention of this review to describe and discuss the clinical implications of albinism with particular emphasis placed on these ocular features and their effects on visual performance. Various techniques that may be employed to aid the albino will also be described.

Albinism↗

PubMed1993

Cockayne's syndrome: correlation of clinical features with cellular sensitivity of RNA synthesis to UV irradiation.

Cockayne's syndrome (CS) is a rare autosomal recessive disorder with dwarfism, mental retardation, and otherwise clinically heterogeneous features. In cultured CS fibroblasts, the failure of RNA synthesis to recover to normal rates after UV-C irradiation provides a useful and relatively simple diagnostic test. We have measured post-UV-C RNA synthesis in 52 patients for whom a clinical diagnosis of CS was considered a possibility. Twenty-nine patients showed the defect characteristic of CS cells, and 23 had a normal response. We have attempted to correlate the cellular diagnosis with the different clinical features of the disorder. Clinical details of the patients were obtained from referring clinicians in the form of a questionnaire. Our results show that, apart from the cardinal features of dwarfism and mental retardation, sun sensitivity correlated best with a positive cellular diagnosis. Pigmentary retinopathy, gait defects, and dental caries were also good positive indicators, although several patients with a positive cellular diagnosis did not have these features.

Adolescent↗

PubMed1994

Diffuse chronic retinal pigment epitheliopathy and exudative retinal detachment.

Two patients with bilateral chronic retinal pigment epitheliopathy are presented. Both patients had large areas of pigment epithelial decompensation and small pigment epithelial detachments at the posterior pole. In the macula subretinal fluid was scanty, but the first patient developed an extensive bullous retinal detachment with shifting of subretinal fluid with changes in posture in both eyes, the second patient had similar detachment in one eye. The etiology of the pigment epithelial disorder remained unknown. No inflammatory cells were found in the vitreous specimen or subretinal fluid in the first patient. Treatment with peroral corticosteroids alone or in combination with azathioprine and cyclosporin A, as well as surgery for retinal detachment in one eye, proved unsuccessful. Argon laser coagulation of the decompensated areas in the macula resulted in resorption of subretinal fluid and reattachment of the exudative detachment.

Adult↗

PubMed1979

[Endocrine polyadenomatosis: progressive neurocristopathy (author's transl)].

Endocrine polyadenomatosis forms but a part of the larger group of neurocristopathy disorders. This term includes those affections due to lesions of cells, tissues, or organs derived from the neural crest. The common origin of the various neuro-endocrine cells within the neural crest suggests that there is a denominator of embryologic pathogenicity for the different polyendocrine affections. Knowledge of these is essential for early diagnosis of the different neuro-endocrine lesions, together with a systematic search for any familial associations.

Acromegaly↗

PubMed1984

Progressive immune failure in dyskeratosis congenita. Report of an adult in whom Pneumocystis carinii and fatal disseminated candidiasis developed.

Community-acquired Pneumocystis carinii pneumonia developed in a young adult patient with dyskeratosis congenita. His hospitalization ended fatally with disseminated candidiasis. Evaluation during the admission showed evidence of cellular immune dysfunction as indicated by skin test anergy and absent lymphocyte proliferation in an in vitro mixed lymphocyte culture. Treatment with transfer factor failed to reverse the cutaneous anergy or affect the clinical course. Dyskeratosis congenita is a rare multisystem disorder with prominent dermatologic manifestations; bone marrow failure or malignant neoplasm are common fatal outcomes. Immune system abnormalities are not classically considered a part of the disease complex. Serial evaluation of our patient's condition over several years suggests that depressed immune function, especially of the cellular limb, may evolve as a feature of clinical importance in these patients.

Acquired Immunodeficiency Syndrome↗

PubMed1986

Ocular features of the Hagberg-Santavuori syndrome.

The Hagberg-Santavuori syndrome, the infantile form of the lipopigment storage disorders (so-called neuronal ceroid-lipofuscinoses), is a rare autosomal recessive disease characterized by progressive mental and motor deterioration with an onset between 1 and 1 1/2 years of age. Visual impairment is usually evident early in the disease and hypopigmented retinal degeneration has been described. We studied two unrelated patients with the infantile Hagberg-Santavuori form and found stellate posterior polar cataracts and retinal degeneration with hyperpigmented "bone spicules" in both.

Adolescent↗

PubMed2003

A review of drug-induced oral reactions.

Every drug can produce untoward consequences, even when used according to standard or recommended methods of administration. Adverse drug reactions can involve every organ and system of the body and are frequently mistaken for signs of underlying disease. Similarly, the mouth and associated structures can be affected by many drugs or chemicals. Good oral health, including salivary function, is very important in maintaining whole body health. Regarding different parts of the oral system, these reactions can be categorized to oral mucosa and tongue, periodontal tissues, dental structures, salivary glands, cleft lip and palate, muscular and neurological disorders, taste disturbances, drug-induced oral infection, and facial edema. In this article, the drugs that may cause adverse effects in the mouth and related structures are reviewed. The knowledge about drug-induced oral adverse effects helps health professionals to better diagnose oral disease, administer drugs, improve patient compliance during drug therapy, and may influence a more rational use of drugs.

Burning Mouth Syndrome↗

PubMed1989

[Apocrine chromhidrosis].

Apocrine chromhidrosis is an extremely rare and impressive skin disorder. Primarily after emotional stress patients complain of coloured sweat secretion (black, green, blue or yellow). The deposition of lipofuscin in the apocrine glands may be the cause of this disease, the different colours of sweat being due to various oxidation stages of lipofuscin. We report two patients, one with blue and one with green axillae; the clinical features, histopathology, differential diagnosis, and pathogenesis of apocrine chromhidrosis are discussed.

Aged↗

PubMed1981

Cosmetic and dermatology: bleaching creams.

Bleaching creams containing hydroquinone are modestly effective in treating some pigmentary disorders. In 2.0% to 5.0% concentrations, hydroquinone is generally quite safe; allergic contact dermatitis may rarely necessitate stopping therapy. Achieving successful results depends on diligent, long-term treatment by patients who have carefully instructed in methods of use as well as protection from sun exposure. Supplemental use of topical corticosteroids, salicylic acid, or tretinoin, under a physician's supervision, improves the results considerably. However, even with the most persistent and careful management, most patients experience at best only partial improvement.

Black People↗

PubMed1997

Hypomelanosis of Ito: a syndrome requiring a multisystem approach.

Hypomelanosis of Ito can be defined as a syndrome providing a cutaneous epiphenomenon with a peculiar pattern of distribution, usually associated with disorders of the nervous system, skeleton and eyes. Four further patients are reported and the literature reviewed. The diagnostic criteria and the differences with other pigmentary diseases distributed along Blaschko's lines are highlighted. The main histopathological features are reported and the high frequency of the associated abnormalities are emphasized. The chromosomal findings and main genetic hypotheses are discussed. The suggested follow-up aims not only at the knowledge of the natural history of this condition, but also at its better delineation.

Adolescent↗