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PubMed1993

Gastrointestinal involvement in a woman with dyskeratosis congenita.

Dyskeratosis congenita (DC) is a rare hereditary condition with characteristic dermatological findings and is frequently associated with the development of pancytopenia. Involvement of the gastrointestinal tract and liver occurs in a significant proportion of patients. Although the disorder is transmitted in an X-linked fashion, several affected females have been described. We report a case of DC involving a woman in whom gastrointestinal symptoms were prominent, primarily diarrhea, gastrointestinal hemorrhage, and ascites. Portal hypertension was evident by the presence of splenorenal varices. Extensive evaluation failed to disclose an etiology for either her colitis or portal hypertension. The literature concerning gastrointestinal involvement in DC is reviewed and a possible association with noncirrhotic portal hypertension is suggested.

Adult↗

PubMed1989

Dominantly transmitted hematologic dysfunction clinically similar to Fanconi's anemia.

We report a family with a dominantly transmitted syndrome resembling Fanconi's anemia and spanning two generations. This syndrome was characterized by an ill-defined hematologic stem cell disorder, immune dysfunction, poor dentition, hyperpigmented skin, warts, and multiple second trimester spontaneous abortions and included one case of acute myelomonocytic leukemia (acute non-lymphocytic leukemia, M4). This family lacks the characteristic chromosomal aberrations of Fanconi's anemia. We believe this constellation of findings represents an entity not previously described.

Abortion, Habitual↗

PubMed1983

X-linked dominant inherited diseases with lethality in hemizygous males.

X-linked dominant inheritance with lethality in hemizygous males is a rare mode of inheritance. The three best-known disorders which seem to be inherited in this way, are incontinentia pigmenti (IP) Bloch-Sulzberger, oral-facial-digital I (OFD I) syndrome, and focal dermal hypoplasia (FDH syndrome, Goltz syndrome). It is the purpose of this article to give a review of the clinical and genetic aspects of the above-mentioned diseases and to add those disorders in which this mode of inheritance is discussed. These disorders are: X-linked chondrodysplasia punctata (CP), cervico-oculo-acusticus syndrome (Wildervanck syndrome, COA), congenital cataract with microcornea or slight microphthalmia, muscular dystrophy--hemizygous lethal, partial lipodystrophy with lipatrophic diabetes and hyperlipidemia, Aicardi syndrome, coxo-auricular syndrome, and Johanson-Blizzard syndrome. OTC deficiency is included in the study, although there is no lethality in utero, only in the neonatal period. A critical evaluation of the current literature is carried out.

Abnormalities, Multiple↗

PubMed2006

Investigation of the lipid component of neuromelanin.

OBJECTIVE: Neuromelanin (NM) is different to other melanins in that its ultrastructure includes a lipid component. The objectives of this study were to identify and quantify lipids associated with NM. RESULTS: Quantification of the lipid component associated with the pigment on electron micrographs demonstrated that this component comprises 35% of the NM granule volume in the normal brain. The irregular ultrastructural appearance of the NM granules was quite different to the round regular boundary of melanin granules. Using reversed phase high performance liquid chromatography (HPLC) coupled with atmospheric pressure chemical ionization (APCI) mass spectrometry we demonstrated that the isoprenoid dolichol accounted for approximately 12% of total NM pigment mass. Low levels of other lipids were detectable (cholesterol, ubiquinone-10 and alpha-tocopherol) and account for <0.05% of NM lipid, in contrast to cholesterol accounting for 35% of total brain lipids. CONCLUSION: Unlike other melanins, a substantial proportion of NM volume is comprised of lipid and the major type of lipid associated with NM granules is the isoprenoid dolichol.

Adult↗

PubMed1975

Skin manifestations associated with tumours of the brain.

In a 4-year period seventy-seven patients with tumours of the brain were investigated for skin manifestations. These were observed in twenty-four (31-2%) and fall into three main groups: Pruritus. Thirteen patients complained of pruritus. Most characteristic is the pruritus of the nostrils, which was observed in six patients. It can be extremely severe and is a sign of an advanced tumour. Pigmentary disorders were observed in seven patients. In two, vitiligo appeared simultaneously with the brain tumour symptoms. In the others, hyperpigmentation appeared on the face later in the course of the disease. Hyperkeratotic changes were manifest in four patients. Two had a mild hyperkeratosis of the palms and soles. The other two developed in addition an ichthyosiform atrophy of the skin. The possible pathogenesis of the skin manifestations associated with brain tumours is discussed.

Adolescent↗

PubMed1996

Hypomelanosis of Ito and X;autosome translocations: a unifying hypothesis.

Hypomelanosis of Ito is a sporadic multisystem disorder known to be associated in many cases with chromosomal mosaicism. While no particular pattern is generally evident for the specific chromosomes involved in such patients, a subgroup of female patients exists in whom the common factor is the presence of a balanced, constitutional X;autosome translocation, with a cytogenetic breakpoint in the pericentromeric region of the X. It is argued here that the phenotype in these cases results not from the interruption of X linked genes but from the presence of mosaic functional disomy of X sequences above the breakpoint.

Centromere↗

PubMed1997

[Side effects of minocycline in the treatment of acne vulgaris].

Minocycline is the most commonly used systemic antibiotic in the long-term treatment (weeks to months) of severe acne vulgaris. Currently much attention is being paid in the Dutch and international literature to the safety of minocycline, after several reports on serious adverse events. The clinical efficacy of minocycline in the treatment of acne vulgaris is better than that of tetracycline and equal to that of doxycycline. The serious adverse events of minocycline therapy described consist of hyperpigmentation of various tissues, autoimmune disorders (systemic lupus erythematosus, autoimmune hepatitis) and serious hypersensitivity reactions (hypersensitivity syndrome reaction, pneumonitis and eosinophilia, and serum sickness-like syndrome). In relation to the number of prescriptions, the number of serious adverse events of minocycline described is small. However, it is very important that prescribing doctors should be aware of the possibility of these adverse events occurring during long-term minocycline therapy and able to recognize the characteristic symptoms at an early stage.

Acne Vulgaris↗

PubMed2003

Dyskeratosis congenita associated with three malignancies.

Dyskeratosis congenita is a rare inheritable disorder characterized by abnormalities of the skin, nails and oral mucosa. Aplastic anaemia resulting from bone marrow hypoplasia is a frequent cause of death. Squamous cell carcinoma developing from leukoplakia and visceral malignancies are other complications of the disease. We report here a case of dyskeratosis congenita in a man who developed three neoplasias of different systems over a period of many years. Squamous cell carcinoma and gastric adenocarcinoma manifested 17 years after the man was diagnosed with Hodgkin's disease.

Adenocarcinoma↗

PubMed1990

Trichotillomania: a histopathologic study in sixty-six patients.

This report reviews the results of scalp biopsies in 66 (38%) of 174 patients with trichotillomania seen at the Mayo Clinic from 1978 through 1988. The most important findings included catagen hairs in 74%, pigment casts in 61%, and traumatized hair bulbs in 21%. Bulbar inflammation and atrophic anagen hairs were not seen. The most characteristic features most often were noted in specimens from areas that had been affected for usually less than 8 weeks. It is important to examine many sections stained with hematoxylin and eosin because only a few sections may show the characteristic changes. The study points out the usefulness of scalp biopsy for making or excluding a diagnosis of trichotillomania.

Adolescent↗

PubMed2003

Lissencephaly and mongolian spots in Hurler syndrome.

Hurler disease or syndrome is a disorder of mucopolysaccharide metabolism, inherited as an autosomal recessive trait. We describe a case of a 15-month-old female exhibiting with clinical and laboratory characteristics of the syndrome, central nervous system lesions (lissencephaly, excessive ventricular enlargement and Dandy Walker malformation with vermis atrophy, cerebellar cyst) and mongolian spots in the trunk and extremities. The combination of mongolian spots and severe central nervous system lesions in Hurler syndrome is considered a rare clinical occurrence, while the association with lissencephaly has never been reported.

Female↗

PubMed2005

Prevalence of different skin conditions in an outpatients' setting in north-western Nigeria.

BACKGROUND: Information on skin diseases in north-western Nigeria is scanty. We therefore conducted a prospective survey of 2611 new patients seen between August 1999 and July 2001 at the consultant medical/dermatology clinics of Usmanu Danfodiyo University Teaching Hospital, Sokoto, Nigeria. METHODS: The personal bio-data of all consecutive patients with skin diseases were documented. They were examined and the diagnoses, which were based on the history of presentation and physical examination, were recorded. Bacteriologic, mycologic, and histologic confirmations were obtained as appropriate. RESULTS: Seven hundred and forty-six patients (28.6%) had skin diseases. There were 407 male and 339 female patients aged between 0.17 and 90 years; the median age was 27 years. The median ages for male and female patients were 28 and 25 years, respectively. There were 900 skin diseases seen in the 746 patients. The majority of skin diseases were found amongst the younger age group, which represented over 85% of the patients. Infectious and parasitic skin diseases accounted for 44.4% of cases; eczema, acne, papulosquamous, and pigmentary skin disorders were observed in 14.1%, 7.0%, 6.4%, and 6.0% of cases, respectively. CONCLUSIONS: Preventable skin diseases are common in north-western Nigeria and predominantly affect individuals in the highly productive age group. Health education is therefore necessary to curb their spread, reduce the associated morbidity, and improve the health status of the population. A concerted effort should be made to train health workers in the diagnosis and treatment of the more common dermatologic conditions.

Acne Vulgaris↗

PubMed1983

Dyskeratosis congenita: two examples of this multisystem disorder.

Two brothers with the X-linked disorder, dyskeratosis congenita, are described. They showed the dermatologic triad of reticular hyperpigmentation, dystrophic nails, and leukoplakia oris as well as the other major feature of this disorder, aplastic anemia. Less common features observed included prenatal and postnatal growth retardation, mental retardation, elevated immunoglobulin levels, and gastrointestinal hemorrhage from mucosal ulceration. Previously unreported findings were intracranial calcifications and nutmeg-like cirrhotic changes of the liver. These brothers demonstrated that skeletal changes and bony fragility may predate anemia or steroid therapy. Although a DNA repair defect is postulated as a possible primary defect, cytogenetic studies revealed no evidence of increased chromosomal breakage.

Adolescent↗

PubMed1999

Contact leukomelanosis induced by the leaves of Piper betle L. (Piperaceae): a clinical and histopathologic survey.

BACKGROUND: In April 1997, an unusual pigmentary disorder was noticed by dermatologists in Taiwan. All patients had a history of using facial dressings with steamed leaves of Piper betle L. (Piperaceae). OBJECTIVE: Our purpose was to clarify the evolution and the origin of this unique leukomelanosis. METHODS: Fifteen patients with an unusual pigmentary disorder, who visited our clinic in September and October 1997, were asked to complete a questionnaire designed to elicit the history related to the disorder. Eight of these 15 patients underwent skin biopsies: 6 on the mottled hyperpigmented area (group A) and 2 on the hypopigmented area (group B). All 8 specimens were prepared with hematoxylin-eosin, Masson-Fontana, and S-100 stains. RESULTS: The results of the questionnaire revealed that these patients had all experienced a temporary erythematous reaction in the first few days of the use of the facial dressing, and 9 of them also complained of an accompanying stinging sensation. A bleaching effect became noticeable approximately 1 week to 1 month later. Eight patients reported that the hyperpigmentation and confetti-like hypopigmentation occurred after overexposure to the sun. In both groups, histopathologic examination revealed some melanophages in the dermis. Masson-Fontana staining of specimens from group A showed local interspersed depigmentation and hyperpigmentation in the basal epidermis and pigmentary incontinence in the dermis. This picture was different from the homogeneous depigmentation within basal epidermis in specimens from group B. In both groups, S-100 staining was negative for melanocytes in the depigmented area. CONCLUSION: The clinical course and histopathologic findings suggest that the evolution of this pigmentary disorder can be divided into 3 stages. The first stage is the immediate bleaching stage, when an irritant reaction is usually conspicuous. The second stage consists of prominent hyperpigmentation visible both grossly and microscopically. The final stage is characterized by confetti-like depigmentation. It may be induced by chemicals in the betel leaves such as phenol, catechol, and benzene derivatives, perhaps through inhibition of melanin synthesis or melanocytotoxicity.

Adult↗

PubMed2006

Cutaneous plasmacytosis: A report of five cases with immunohistochemical evaluation for HHV-8 expression.

Cutaneous plasmacytosis is a rare disorder that typically affects middle-aged to older individuals of Asian, particularly Japanese, descent. Clinically, it is characterized by multiple asymptomatic red-brown plaques and nodules on the trunk. Lymphadenopathy and hypergammaglobulinemia may be present. Histologically, the lesions show a moderately dense superficial and deep perivascular infiltrate composed predominantly of mature plasma cells without atypia or light chain restriction. We report our experience with five additional cases, including results of immunohistochemical studies for human herpes virus 8.

Adult↗

PubMed1980

[Trichopoliodystrophy or Menkes disease].

Trichopoliodystrophy (also known as Menkes' kinky or steely hair disease), a recessive sex-linked syndrome, is characterized by severely retarded mental and physical development, convulsions, a particular phenotype and abnormalities of the hair, bones and arteries. Very low levels of copper and ceruloplasmin in the serum confirm the diagnosis. This rare disorder is caused by an inborn error of copper metabolism whose nature is not yet clear. Recent hypotheses favour either an abnormality in the transport of copper across the cell membrane or increased affinity for copper of the intracellular binding protein. Because the metabolic abnormality is expressed autonomously and irregularly in various tissues, the distribution of copper within the body is disordered. Up to now none of the many forms of copper therapy has succeeded in modifying the fatal course of the disease in humans. This article presents a new case, the first in Canada, and a review of the other 69 cases described in the literature. The new case illustrates, in addition to the classic picture, less well known features, such as diverticula of the bladder mucosa and serosa, as well as cortical atrophy and malformed cerebral vessels demonstrated by computer-assisted tomography.

Angiography↗

PubMedDate not supplied

Familial cutis tricolor: a possible example of paradominant inheritance.

Cutis tricolor is a recently described skin disorder characterized by the coexistence of congenital hyper- and hypopigmented macules adjacent to each other on a background of normal skin. It has been considered to represent an example of didymosis (twin spotting), which is a particular form of loss of heterozygosity. Cutis tricolor may occur as a cutaneous feature of various multisystem birth defects. We report two sisters with cutis tricolor. One of them had, in addition, unilateral hypoplasia of the breast. This familial occurrence of cutis tricolor may best be explained by the concept of paradominant inheritance. 2003.

Abnormalities, Multiple↗

PubMed1992

Dermatopathia pigmentosa reticularis: a report of a family demonstrating autosomal dominant inheritance.

Dermatopathia pigmentosa reticularis is a rare heritable disorder consisting of a triad of cutaneous findings including reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy. In addition to this triad, other variable features of dermatopathia pigmentosa reticularis have been described, including adermatoglyphia, hypohidrosis or hyperhidrosis, and palmoplantar hyperkeratosis. Only 10 cases have been described in the world literature to date, and no clear inheritance pattern has been demonstrated. We present a patient with the classic features of the dermatopathia pigmentosa reticularis triad, along with adermatoglyphia, hypohidrosis, and punctate hyperkeratosis of the palms and soles. A family pedigree demonstrates the autosomal dominant inheritance of dermatopathia pigmentosa reticularis.

Adult↗

PubMed1984

Adrenal insufficiency in a general hospital over a 14-year period.

Over a 14-year period, 26 patients with adrenal insufficiency of multiple etiology were evaluated. Eight were diagnosed at autopsy, six of whom had acute bilateral adrenal hemorrhage. Nine had chronic adrenal insufficiency. Of these, five were idiopathic and three had polyglandular disorders. Four others had tuberculosis. Six of nine patients with chronic adrenal insufficiency were hyperpigmented. Unusual manifestations of adrenal hypocorticism included hypercalcemia, flaccid paralysis, and joint contractures. The presence of multiple hormonal deficiencies focused the diagnosis on hypopituitarism. Two cases of isolated ACTH deficiency were detected. Patients with familial Mediterranean fever with amyloidosis commonly presented with reduced adrenal reserve rather than overt insufficiency. Metastatic cancer of the adrenal glands was a rare cause of reduced adrenal reserve.

Adolescent↗