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PubMedDate not supplied

The gut and the skin.

Many disorders of the gastrointestinal tract have cutaneous manifestations. In this article the skin signs and diseases that are most commonly associated with gastrointestinal disease are described.

Adenocarcinoma↗
PubMed1987

[Dietary carotenodermias].

Four cases of carotenodermia are presented, secondary to marked ingestion of carotenoid-rich vegetables. The first case was a 34 year old woman who presented with yellow palms and soles while on Weight Watchers diet. Loss of weight was accompanied by irregular menses. The second case was a 21 year old woman with orange palms and soles probably due to lycopenemia by tomatoes rich regimen. The third case is a 52 year old woman with the same type of diet as in case 1, associated with high cholesterol level. The fourth case is a 1.5 year old boy with a high intake of commercially available meals ("petits pots"). All the patients were free of disease usually associated with high level of carotenemia. Irregular menses or amenorrhea may be observed in such cases, either due to the rapid weight of loss, or as a manifestation of psychiatric disorder, and anorexia nervosa is possibly encountered. The toxicity of carotenoids is unproven and others substances ingested with high content vegetables diets are possible answerables.

Adult↗
PubMed1979

Alkaptonuria.

Alkaptonuria is found relatively frequently in Slovakia, Eastern Czechoslovakia (1 in 25,000 inhabitants). Reported herein are the clinical, radiographic, and biochemical aspects and genetics of 126 patients with alkaptonuria. Forty-seven were diagnosed in childhood; the sequential appearance of each manifestation is documented by decade. A simple screening method for this disorder is described. Pedigree analyses confirm recessive inheritance. Possible genetic and sociologic factors responsible for this high frequency of alkaptonuria are discussed.

Adolescent↗
PubMed1995

Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism.

Piebaldism is an autosomal dominant genetic disorder of pigmentation characterized by white patches of skin and hair. Melanocytes are lacking in these hypopigmented regions, the result of mutations of the KIT gene, which encodes the cell surface receptor for steel factor (SLF). We describe the analysis of 26 unrelated patients with piebaldism-like hypopigmentation--17 typical patients, 5 with atypical clinical features or family histories, and 4 with other disorders that involve white spotting. We identified novel pathologic mutations or deletions of the KIT gene in 10 (59%) of the typical patients, and in 2 (40%) of the atypical patients. Overall, we have identified pathologic KIT gene mutations in 21 (75%) of 28 unrelated patients with typical piebaldism we have studied. Of the patients without apparent KIT mutations, none have apparent abnormalities of the gene encoding SLF itself (MGF), and genetic linkage analyses in two of these families are suggestive of linkage of the piebald phenotype to KIT. Thus, most patients with typical piebaldism appear to have abnormalities of the KIT gene.

Adolescent↗
PubMed1989

Transient blueberry muffin appearance of a newborn with congenital monoblastic leukemia.

A full-term male infant was born with skin findings suggesting a blueberry muffin appearance. Biopsy of a cutaneous nodule was consistent with monoblastic leukemia cutis, and bone marrow examination confirmed the diagnosis of leukemia. The infant has remained well 2 years after spontaneous resolution of the cutaneous eruption. Infiltrative neoplasms should be considered along with congenital infections and hematologic disorders in the differential diagnosis of a newborn with a blueberry muffin appearance.

Biopsy↗
PubMed2000

Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqter.

We have identified a four-generation family with 10 affected females manifesting one or more of the following features: osseous dysplasia involving the metacarpals, metatarsals, and phalanges leading to brachydactyly, camptodactyly, and other digital deformities; pigmentary defects on the face and scalp; and multiple frenula. There were no affected males. We performed X-inactivation studies on seven affected females, using a methylation assay at the androgen receptor locus; all seven demonstrated preferential inactivation of their maternal chromosomes carrying the mutation, and two unaffected females showed a random pattern. These findings indicate that this disorder is linked to the X chromosome. To map the gene for this disorder, we analyzed DNA from nine affected females and five unaffected individuals, using 40 polymorphic markers evenly distributed throughout the X chromosome. Two-point and multipoint linkage analyses using informative markers excluded most of the X chromosome and demonstrated linkage to a region on the long arm between DXS548 and Xqter. A maximum LOD score of 3.16 at recombination fraction 0 was obtained for five markers mapping to Xq27.3-Xq28. The mapping data should facilitate the identification of the molecular basis of this disorder.

Abnormalities, Multiple↗
PubMed1996

Sporadic hypomelanosis of Ito with focal hypertrichosis in a 16-month-old girl.

We report the case of a 16-month-old girl with hypomelanosis of Ito, a relatively rare phenotype associated with neurocutaneous manifestations. The characteristic hypopigmented streaks along the Blaschko lines were associated with hypertrichosis of the genitals and shins, as well as musculoskeletal and dental anomalies. An underlying endocrinologic disorder of the hypertrichosis could be excluded. This presumes focal hypertrichosis as another phenotypic expression of mosaicism in this disease.

Diagnosis, Differential↗
PubMed2001

Incontinentia pigmentii acromians with seizure disorder: a case report.

Incontinentia pigmentii acromians (IPA) is a bizarre, irregularly shaped leukoderma of the trunk and extremities, characterized by marble cake-like whorls or streaks of hypopigmentation whose distribution can be unilateral or bilateral. Mode of inheritance is most consistent with an autosomal dominant type and in majority of the cases, one or more anomalies are present involving dermatological, dental and ocular disorders. A case of a female child, aged 2 1/2 yrs, referred from Pediatric neurology department, Medical College, Trivandrum with Incontinentia pigmentii acromians and seizure disorder is reported. Hamartomatous dental cusps and single maxillary central incisors have been associated with Incontinentia pigmentii acromians. A case of Incontinentia pigmentii acromians with hypoplastic teeth and tongue abnormalities is presented.

Brain↗
PubMed1985

Dyskeratosis congenita in a girl simulating chronic graft-vs-host disease.

Dyskeratosis congenita (DCG) is a rare genodermatosis characterized primarily by reticular hyperpigmentation of the skin, dystrophy of the nails, and leukoplakia. It is frequently associated with Fanconi-type pancytopenia. Although DCG has a male predisposition, it has been reported in several female patients. We encountered a case of DCG occurring in a girl whose clinical features simulated chronic graft-vs-host disease (GVHD). Because DCG and chronic GVHD share several clinical and histologic features, physicians should always examine a patient for possible DCG whenever a diagnosis of chronic GVHD is considered. In addition, the similar manifestations of the two disorders suggest a similar pathogenesis on a cellular level in the immunologic system.

Adolescent↗
PubMed1983

White sponge nevus: successful treatment with penicillin.

White sponge nevus is a rare, benign, inherited disorder of the mucous membranes, affecting mainly the oral mucosa. A case is reported of white sponge nevus, which showed a definite improvement following penicillin administration.

Adult↗
PubMed1992

Pigmentary disorders and inflammatory lesions of the external genitalia.

Many cutaneous processes can involve the external genitalia as a part of the general involvement of the skin. Other processes may affect only the genitalia, such as several pigmentary disorders and inflammations. As a result, these conditions may be mistaken for sexually transmitted diseases. It is important to include these conditions in the differential diagnosis.

Diagnosis, Differential↗
PubMed1995

Hemifacial hypoplasia and hypomelanosis of Ito.

We present three cases of hemifacial hypoplasia associated with hypomelanosis of Ito. The facial deformity is often severe with marked soft tissue shortage and underlying skeletal hypoplasia posing difficulty in reconstruction. The external ear is relatively uninvolved, although a degree of hypoplasia is usually present. The hallmark of hypomelanosis of Ito is linear depigmentation of skin often associated with asymmetric abnormalities. It is a heterogenous disorder due to chromosomal mosaicism, but cytogenetic confirmation of the diagnosis may be difficult. The relationship between mosaicism and anatomical asymmetry is discussed.

Abnormalities, Multiple↗
PubMed1991

White forelock in Marfan's syndrome: an unusual association, with review of the literature.

The cutaneous expression of Marfan's syndrome is generally limited to striae distensae and a number of uncommon associations with other dermatologic disorders. To date, there have been no reported cases of hair or nail abnormalities accompanying this disorder. We describe a patient with Marfan's syndrome who presented with an acquired white forelock and we review the literature on the association of poliosis with various entities.

Adult↗
PubMed1989

Ultraviolet light-induced confluent and reticulated papillomatosis.

A 16-year-old girl initially had an eruption consisting of dark gray, flat, pin-sized, confluent papules with a slight hyperkeratotic surface. The lesions appeared after her summer holidays and were restricted to the tanned skin of sun-exposed areas, mainly the abdomen and back. Clinical and histologic findings were consistent with confluent and reticulated papillomatosis. If a basic disorder of keratinization is the cause of confluent and reticulated papillomatosis, it seems likely that the development of the disease in our patient may be due to an abnormal epidermal response to ultraviolet light.

Adolescent↗