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At least 1,621 records · Page 90Linked to original sources
PubMed1985

Chylous ascites, intestinal lymphangiectasia and the 'yellow-nail' syndrome.

In 1964 Samman and White described 13 patients with lymphoedema of the lower extremities associated with an unusual dystrophy of the finger and toe nails: this they termed the 'yellow-nail' syndrome. Affected nails were thickened, excessively curved along both axes, very slow growing and of yellowish-grey hue; cuticle and lunula were usually absent and onycholysis was frequently evident. Lower limb lymphangiography in most individuals revealed hypoplasia, or aplasia of the lymphatics, similar to that occurring in primary lymphoedema: other patients also developed pleural effusions of high protein content or ascites suggestive of a more generalised disorder of the lymphatic system. Here we describe a patient in whom the classical 'yellow-nail' syndrome was associated with intestinal and chylous ascites.

Chylous Ascites↗
PubMed1977

[Fibrous dysplasia].

Fibrous dysplasia of bone may occur also in the facial skeleton. Main locations are the lateral midface and the mandible. The foci, which are sharply circumscribed in most cases, produce tumour-simulating deformities of single of several facial bones and, in part, disorders of the articulation are bulbar displacements. In contrast to Paget's disease, fibrous dysplasia is a disorder of the younger age groups. Apart from bony changes, Albright's syndrome (which occurs in women only) comprises also irregular, circumscribed café-au-lait patches and signs of somatic and sexual precocity.

Facial Bones↗
PubMed1985

Unusual neurocutaneous syndromes.

During the last several decades, the number of these rare heterogeneous disorders described as neurocutaneous syndromes has significantly increased. The criteria for inclusion have become more general, although most of the disorders have dysplastic features, many do not have a tendency for tumor formation. Further, not all of these disorders are heritable and some are reported in only one or two families. Nonetheless, there is some merit for the clinician, geneticist, and embryologist to consider these anomalies of embryologic development on some common ground. Knowledge of these syndromes is important to correctly establish the diagnosis and prognosis. In cases of the heritable disorders, genetic counseling is essential. Finally, these disorders are of theoretic importance to all biologists, as the exchange of information will be essential to ultimately unravel the reasons for their cause.

Arteriovenous Malformations↗
PubMed1975

[The Rothmund-Thomson-syndrome. A case report].

This case of Rothmund-Thomson Syndrome is presented because of its association with hitherto unrecognized disorders, especially internal malignancy. The position and linkage of these associated symptomes with the genetically determined syndrome of Rothmund and Thomson is discussed.

Abnormalities, Multiple↗
PubMed1985

Lyonization and the lines of Blaschko.

The lines of Blaschko represent a nonrandom developmental pattern of the skin fundamentally differing from the system of dermatomes. Many nevoid skin lesions display an arrangement following these lines. This is a review of case reports providing photographically documented evidence that the lines of Blaschko become manifest in the heterozygous state of various X-linked gene defects such as incontinentia pigmenti, focal dermal hypoplasia, X-linked dominant chondrodysplasia punctata, X-linked hypohidrotic ectodermal dysplasia, and Menkes syndrome. Hence, a causal relationship between lyonization and the lines of Blaschko seems quite obvious. Although it should be borne in mind that other genetic mechanisms such as somatic mutations or chimerism may give rise to the same linear pattern, the datable embryologic event of X-inactivation seems most suitable to explain the origin and nature of the lines of Blaschko. Apparently, in women affected with X-linked skin disorders the lines of Blaschko visualize the clonal proliferation of two functionally different populations of cells during early embryogenesis of the skin. The typical dorsal V-shape and the abdominal S-figure of these lines may result from an interference of the transversal coherent proliferation with the longitudinal growth and flexion of the embryo. In contrast to Blaschko's original assumption, it is now clear that these lines are independent from the metameric structure of the human body. Obviously, they represent a marker of the normal development of human skin. Therefore, a thorough study of the distribution pattern of X-linked skin disorders in women may give us a better insight into the early embryogeny of the human integument.

Adult↗
PubMed1991

Schimke immuno-osseous dysplasia: a newly recognized multisystem disease.

On the basis of five cases personally observed and one previously reported, we describe a disorder characterized by skeletal dysplasia, rapidly progressive nephropathy, episodes of lymphopenia, and pigmentary skin changes. Defects of T-cell function were compatible with an autoimmune process. The disorder is probably of genetic origin and inherited as an autosomal recessive trait.

Antigens, CD↗
PubMed1987

Laugier-Hunziker syndrome.

The Laugier-Hunziker syndrome represents a rare acquired pigmentary disorder of the lips, oral mucosa, and nails. We report the first case of this syndrome to be recognized in the United States and review other causes of hyperpigmentation in these locations.

Adult↗
PubMed2002

Mucocutaneous adverse effects of hydroxyurea: a prospective study of 30 psoriasis patients.

Hydroxyurea is an anti-tumour agent most commonly used to treat chronic myeloproliferative disorders in doses up to 4 g per day. Dermatological adverse effects reported so far have been observed predominantly in these patients. As we are treating selected psoriasis patients with low dose hydroxyurea we attempted to define the spectrum and chronology of dermatological adverse effects in this group of patients prospectively. Of the 29 evaluable patients, 19 (65.5%) developed a mucocutaneous adverse reaction after a mean duration of 6.4 weeks of treatment. Pigmentation of nails, skin or mucosa was the most common observation and was seen in 17 (58.6%) patients. Other less common findings were xerosis, diffuse alopecia, oedema of the legs, oral ulcers and actinic psoriasis. Adverse effects subsided in 11 (57.9%) patients during a mean follow up of 18 weeks. Three hitherto unreported side-effects - scleral pigmentation, acquired ichthyosis and pigmentation of lunula of the nails - were noted. This first study of dermatological adverse effects of hydroxyurea therapy on Asian psoriatic patients reveals several new findings. Pigmentation of skin, nails and mucosa appears to be very common and occurs early. Serious dermatological side-effects probably do not occur with low dose (up to 1.5 g per day) hydroxyurea in patients with psoriasis.

Adult↗
PubMedDate not supplied

Hypomelanosis of Ito with Sturge-Weber syndrome-like leptomeningeal angiomatosis.

The term hypomelanosis of Ito (HI) is applied to individuals with skin hypopigmentation following the lines of Blaschko (type 1a of patterns indicative of somatic mosaicism as defined by Happle). Even though originally described as a purely cutaneous disease, subsequent reports of HI have included a 30-94% association with multiple extracutaneous manifestations. The frequency of extracutaneous associations has led many authors to consider HI to be neurocutaneous disorder. We report a male infant with cutaneous hypomelanosis along the lines of Blaschko distributed on the left half of the body who developed status epilepticus. Neuroimaging studies disclosed an angiomatous enlargement of the right choroid plexus and a gyral pattern of cortical and subcortical calcification in the right occipital region. Thus a diagnosis could be made of HI and associated Sturge-Weber syndrome-like leptomeningeal angiomatosis. This previously unreported association lends further support to the consideration of hypomelanosis of Ito as a marker of somatic mosaicism with frequently associated neurologic abnormalities. A relationship between HI and Sturge-Weber syndrome, two neuroectodermal disorders with a genetic mosaicism basis, might be possible due to nonallelic twin-spotting which in the embryologic period would define an abnormal development of neural, vascular, and cutaneous structures.

Anticonvulsants↗
PubMed1977

Dyskeratosis congenita: hematologic evaluation of a sibship and review of the literature.

Dyskeratosis congenita is a rare genodermatosis whose hematologic complications include pancytopenia of variable time of onset, a propensity for opportunistic infections, and neoplasia. A family in which the disorder segregated in 3 generations and involved 9 members is reported, and the hematologic data of the 46 previously reported cases are reviewed.

Adult↗
PubMed1972

Ceramidase deficiency in Farber's disease (lipogranulomatosis).

Ceramidase activity could not be demonstrated in the kidney and cerebellum from a deceased patient with Farber's disease, whereas the activities of six control acid hydrolase enzymes appeared normal. This enzyme defect presumably accounts for the accumulation that has been described in two patients and may represent the biochemical basis of this disorder.

Acid Phosphatase↗
PubMed1985

Ocular findings in incontinentia pigmenti.

Incontinentia pigmenti is an uncommon disorder affecting females, and is associated with ocular, dental, skeletal, and central nervous system abnormalities. Ocular abnormalities are found in 35% of cases. The authors present an eight-month-old girl with neonatal history of skin bullae, who was noted to have esotropia, leukocoria, and a fixed pupil. Histologic examination of the enucleated globe reveals total retinal detachment with retinal neovascularization into the collapsed vitreous, reactive retinal gliosis, and scattered giant nodular proliferations of retinal pigment epithelium. It is suggested that the underlying defect is at the level of the retinal pigment epithelium and that the neurosensory retinal changes are secondary.

Child Development↗
PubMedDate not supplied

Hereditary familial polyposis and Gardner's syndrome: contribution of the odonto-stomatology examination in its diagnosis and a case description.

Familial Adenomatous Polyposis (FAP) and its phenotype variant, Gardner's syndrome, constitute a rare autosomal dominant inherited disorder. They are characterised by the development, generally during the second and third decades of life, of multiple adenomatous polyps in the colon and rectum. These polyps have a high risk of subsequently becoming malignant, which normally occurs in the third and fourth decades of life. The phenotypical features of FAP can be very variable. As well as colorectal polyps, these individuals can present with extra-colonic symptoms, among which are particularly: gastro-duodenal polyps, dermoid and epidermoid cysts, desmoid tumours, congenital hypertrophy of the retinal pigment epithelium, disorders of the maxillary and skeletal bones and dental anomalies. In this paper the most important aspects of this syndrome are reviewed, showing an example based on a well documented clinical case. The importance of odonto-stomatological examinations should be pointed out, among others, as a means of reaching a presumptive diagnosis, whose confirmation is vital to the patient.

Adenomatous Polyposis Coli↗
PubMed1984

Primary disorders of hyperpigmentation.

A classification of primary hyperpigmentation conditions is presented. The emphasis is on clinical aspects and an attempt has been made to show, when possible, a spectrum beginning with localized involvement and progressing to the more extensive involvement. Most primary hyperpigmentation conditions and syndromes are inherited by autosomal dominant genetics; notable exceptions include incontinentia pigmenti, classic dyskeratosis congenita, and xeroderma pigmentosum. Early German case reports provide insight into the spectrum of uncommon pigmentary conditions, such as dermatopathia pigmentosa reticularis. The Japanese observe pigmentary problems frequently, have presented some of the more unusual cases, and have recently provided us with much-needed research into the problem of abnormal pigmentation.

Acanthosis Nigricans↗
PubMed1988

Changes in hair color.

Hair color changes result not only from alterations of melanin production but also from changes in the hair structure itself, altering its optical properties. A variety of genetic, metabolic, nutritional, and acquired disorders result in hair color changes. When the underlying defect can be corrected, hair color usually returns to normal. The flag sign can occur as a result of nutritional insults or due to medications. Most drug-induced changes in hair color result in lighter hair color, although PABA and some chemotherapy regimens have darkened hair. Green hair due to exogenous copper may be associated with prior damage to the hair cuticle. Alopecia areata may selectively involve pigmented hairs. Regrowing white hairs have shown both keratinocyte and melanocyte abnormalities. Gray hair may temporarily darken after inflammatory processes, after electron-beam-induced alopecia, and after some chemotherapy regimens. Much remains to be learned about the physiology of human graying.

Aging↗
PubMed1992

The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes.

Complementary DNA clones from the pink-eyed dilution (p) locus of mouse chromosome 7 were isolated from murine melanoma and melanocyte libraries. The transcript from this gene is missing or altered in six independent mutant alleles of the p locus, suggesting that disruption of this gene results in the hypopigmentation phenotype that defines mutant p alleles. Characterization of the human homolog revealed that it is localized to human chromosome 15 at q11.2-q12, a region associated with Prader-Willi and Angelman syndromes, suggesting that altered expression of this gene may be responsible for the hypopigmentation phenotype exhibited by certain individuals with these disorders.

Amino Acid Sequence↗
PubMed1986

The genodermatoses and their significance in pediatric dermatology.

This article presents a detailed discussion of six genetic disorders with major cutaneous manifestations that might commonly be seen by the dermatologist or pediatrician. These include neurofibromatosis, tuberous sclerosis, xeroderma pigmentosum, incontinentia pigmenti, incontinentia pigmenti achromians, and Down's syndrome. The appearance of each disease at birth is described, and all manifestations of each entity are discussed in detail. Disorders with different inheritance patterns were chosen so that important genetic principles could be elucidated. The article concludes with a general discussion of genetic counseling, which draws upon the six genetic diseases for specific examples of important concepts.

Child↗
PubMed1982

[X-chromosome-linked hereditary dermatoses].

In X-linked inheritance, the difference between the terms dominant and recessive is blurred by the Lyon effect. In some X-linked recessive genodermatoses, the Lyon effect makes the detection of heterozygote females possible, either by clinical cromanifestations or by enzymatic demonstration of two functionally different populations of cells. The gene locus of X-linked recessive ichthyosis, however, escapes X-inactivation, but heterozygotes can be detected by enzyme analysis in this condition, too. X-linked dominant gene defects with manifestation in both sexes include keratosis follicularis spinulosa decalvans, and probably also the Bazex syndrome. The group of X-linked dominant gene defects with lethality in the male comprises incontinentia pigmenti, focal dermal hypoplasia, the oral-facial-digital syndrome and the CHILD syndrome. Prenatal diagnosis of severe X-linked conditions can be performed when the underlying defect of cell function is known (Fabry disease, Menkes syndrome). In other severe X-linked disorders, the possibility of prenatal determination of the sex may be considered (Wiskott-Aldrich syndrome, X-linked dominant chondrodysplasia punctata, oral-facial-digital syndrome).

Ehlers-Danlos Syndrome↗