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PubMed1994

Sequential recording of photic and nonphotic electro-oculogram responses in patients with extensive extramacular drusen.

At present, no clinical electrophysiologic test defines dysfunction of the retinal pigment epithelium. We studied four electrophysiologic responses of the retinal pigment epithelium to compare results from three normal subjects with those from three patients with a diffuse retinal pigment epithelial disorder, extramacular drusen. We recorded the fast oscillation, hyperosmolarity response, acetazolamide response, and light peak by means of a clinical protocol in which these could be elicited consecutively. We found no significant differences between the normal subjects and patients with drusen for any of the four responses. These results suggest that retinal pigment epithelial electrophysiologic function is well maintained despite the widespread physical abnormalities of the retinal pigment epithelium in extramacular drusen. This combined test was well tolerated and may prove useful in characterizing other diseases involving the retinal pigment epithelium.

Acetazolamide↗
PubMed1991

Hypomelanosis of Ito in three cases with autism and autistic-like conditions.

Two girls and a boy showing autistic behaviour and fulfilling the criteria for autistic disorder, Asperger syndrome or atypical autism were diagnosed as having hypomelanosis of Ito syndrome. It is suggested that skin changes indicating underlying neurocutaneous disorders be meticulously looked for in all cases with autism and autistic-like conditions.

Adolescent↗
PubMed2000

Terminal osseous dysplasia and pigmentary defects: clinical characterization of a novel male lethal X-linked syndrome.

We describe a new syndrome of distal limb anomalies and pigmentary skin defects in 10 females of a large, four-generation pedigree. The family was ascertained through a 4-month-old infant girl with multiple anomalies, including hypertelorism, iris colobomas, low-set ears, midface hypoplasia, punched-out pigmentary abnormalities over the face and scalp, generalized brachydactyly, and digital fibromatosis. No affected males were identified in this pedigree. Affected females had a lower than normal male-to-female ratio of liveborn offspring, and some of them also had a history of several miscarriages. These findings, together with a significant variability in the phenotype of the affected females, suggest that this condition is inherited in an X-linked dominant fashion, with prenatal male lethality, and that X-inactivation plays an important role in the phenotypic expression of the disease. The syndrome has been described twice in the literature, but only in sporadic cases; it was therefore not recognized as a mendelian entity. Because the most consistent findings are anomalies of the distal skeleton of the limbs and localized pigmentary abnormalities of the skin, we named the syndrome "terminal osseous dysplasia with pigmentary defects." This condition, though rare, can be added to the small group of male lethal X-linked dominant disorders in humans.

Bone Diseases, Developmental↗
PubMed1987

Extracolonic manifestations of familial polyposis coli.

The original concept of familial polyposis coli (FPC) as only a genetically determined premalignant disease of the colon changed in the 1950's, with the description of Gardner's syndrome. The extracolonic manifestations of osteoma and epidermoid cyst have since been shown to be only a small part of the spectrum of both benign and malignant extracolonic manifestations of the disease. The modern concept of this condition is that FPC is a genetically determined generalized growth disorder that gives rise to tumors in various parts of the body.

Adenoma↗
PubMedDate not supplied

Accelerated phase at initial presentation: an uncommon occurrence in Chédiak-Higashi syndrome.

The authors describe an Indian child, who presented in the accelerated phase of the Chédiak-Higashi syndrome. The disease usually presents in early childhood with recurrent skin and mucosal infections. This patient had subtle pigmentary abnormalities and no family history of the disease, which made the clinical diagnosis difficult. The cytopenias, hepatosplenomegaly, lymphohistiocytic infiltrate in the bone marrow, and the characteristic granules in the leucocytes clinched the diagnosis. This case underscores the importance of a bone marrow examination in patients with unusual presentations of rare disorders.

Blood Cells↗
PubMed2002

Transposable elements and the lines of Blaschko: a new perspective.

BACKGROUND: Transposable elements or retrotransposons are particles of retroviral origin that are interspersed in large numbers in the genome of plants and animals. They may affect the activity of adjacent genes by methylation or demethylation, resulting in silencing or activation of gene expression. In animals such as mice or dogs, retrotransposons may give rise to phenotypic variation in the form of variegated coat patterns reminiscent of the lines of Blaschko as observed in human skin. OBJECTIVE AND METHODS: Because the human genome does likewise contain large amounts of retrotransposons, it is conceivable that these elements may cause similar skin lesions in human skin. The group of genodermatoses following the lines of Blaschko was therefore screened for phenotypes suggesting such an epigenetic origin. RESULTS: As possible examples, the inflammatory linear verrucous epidermal nevus as well as cases of pigmentary mosaicism arranged in hypermelanotic or hypomelanotic streaks following the lines of Blaschko may be taken into consideration. Such phenotypes usually occur sporadically but may affect, by way of exception, several members of a family. CONCLUSION: These linear skin disorders would possibly visualize the action of a transposable element that is partly expressed and partly silenced at an early developmental stage.

Animals↗
PubMed1977

Hypopigmented sarcoidosis in the negro. Report of eight cases with ultrastructural observations.

The dermatological aspects of eight negro patients with hypopigmented sarcoid lesions are described. Light microscope histochemical studies in patients did not reveal the mechanism of the hypopigmentation. However, electronmicroscopy of lesions in two patients showed melanocytes undergoing changes resembling those observed in other acquired hypopigmentary conditions. It is suggested that in these disorders, melanocytes react morphologically in a similar non-specific manner, whatever the prime pathological process.

Adult↗
PubMed1986

Skin discoloration in chronic idiopathic thrombocytopenic purpura: detection of local iron deposition by X-ray spectrometry.

A forty-six-year-old woman with a 32 years' history of idiopathic thrombocytopenic purpura presented with black-brown discoloration of her lower limbs. Noninvasive diagnostic X-ray spectrometry (DXS) for determination of trace elements in external tissues revealed striking local iron deposition confined to the skin area with the pigmentary changes. Iron deposition in the skin was probably due to recurrent local purpura caused by longstanding bleeding disorder. Hence DXS proved useful in the detection of local iron load and eliminated the need for skin biopsy in this patient with bleeding tendency.

Female↗
PubMed1982

On the nature of idiopathic guttate hypomelanosis.

Clinical and morphologic studies were made of 20 cases of guttate hypomelanosis. The sharply demarcated hypopigmented macules were present on both covered and exposed sites, excluding sunlight exposure as a cause. Skin surface replicas and biopsies showed no evidence of post-traumatic or post-inflammatory scarring. The stratum corneum had fewer cell layers, but no abnormalities of keratinization were observed. Light and electron-microscopic and histochemical studies showed only reduced numbers of hypoactive melanocytes. In no case were melanocytes completely absent, excluding vitiligo. Guttate hypomelanosis is a common disorder of unknown origin. The evidence indicates an age-related somatic mutation of melanocytes.

Age Factors↗
PubMed2025

Multi-Omics Analysis of the Potential Mechanisms of Skin Albinism in Edangered Percocypris pingi: Abnormal Ubiquitination and Calcium Signal Inhibition.

Percocypris pingi is an endangered protected fish species in China. Its albino variants exhibit growth retardation and physiological abnormalities. Understanding its albinism mechanism holds significant scientific importance for molecular breeding programs and disease model development. This study integrated transcriptomic and proteomic analyses, combined with histopathological and molecular biological techniques, to systematically compare molecular differences in skin tissues between albino and wild-type P. pingi, with a focus on elucidating the multidimensional regulatory mechanisms underlying skin albinism. Our findings suggest that albinism in P. pingi is synergistically driven by hyperactivation of ubiquitin-mediated proteolysis (which suppressed TYR/TYRP1 enzymatic activity and disrupted the pH homeostasis of melanosomes), and inhibition of calcium signaling (which impeded melanin transport). This discovery provides novel insights into the mechanisms of pigment loss in fish species and offers a valuable reference for molecular breeding of endangered species as well as research on pigmentation-related disorders.

Animals↗
PubMed1990

[Juvenile Crow-Fukase syndrome with response to bolus of methylprednisolone after failure of treatment by plasma exchange].

A 20-year-old woman was hospitalized because of abdominal distention. She had developed facial edema about one year earlier, and recently amenorrhea and red verrucae on the chest and abdomen. Neurological examination disclosed hypesthesia, paresthesia, and diminished tendon reflexes in the arms and legs. The level of serum immunoglobulin A (IgA) was elevated and an M protein was detected. Examination of the bone marrow disclosed abnormal increase in plasma cells. Results of glucose tolerance test were mildly abnormal. The patient was diagnosed as Crow-Fukase syndrome. Plasma exchange was done four times and melphalan was given orally for two weeks, but the level of serum IgA increased further. Then one bolus injection of methylprednisolone decreased the serum IgA with improvement in other signs. The disorder is now controlled satisfactory with a low dose of prednisolone.

Adult↗
PubMed1995

[Skin changes in endocrine disorders (with the exception of diabetes)].

Endocrinologic disorders occasionally manifest themselves by cutaneous abnormalities. In some instances, these alterations are the most prominent complaints of the patient. It is then important that the physician is able to recognize them as the manifestation of the endocrinologic disease. In this review, we describe the main cutaneous lesions occurring in endocrinopathy, like troubles of the skin pigmentation [melasma, acanthosis nigricans, Addison's disease, Cushing's syndrome, vitiligo], generalized or pretibial myxedema, acne and androgen excess, hirsutism. Where known, we try to approach the physiopathologic mechanisms that account for cutaneous changes. Additionally, some treatments are discussed.

Acne Vulgaris↗
PubMed2004

[Common disorders and diseases of the nails. Anatomy, physiology, disorders, clarification and therapy].

Disorders of anatomical variants of the nails are often seen in clinical practice. Their correction identification and interpretation are essential dermatological skills. The increasing emphasis on aesthetic considerations in dermatology means that even the slightest nail changes may assume significance for their patients. In order to skillfully evaluate nails, one must be familiar with the terminology and classification of nail disorders. The nail plate, nail bed and periungual tissue may also be affected. Longitudinal melanonychia is especially important as a possible clue to subungual melanoma.

Diagnosis, Differential↗
PubMedDate not supplied

X-linked reticulate pigmentary disorder with systemic manifestations: report of a third family and literature review.

Three siblings, two boys and one girl, presented with pigmentary abnormalities. The brothers, ages 11 and 6 years, had diffuse reticulate macular hyperpigmentation with onset in early childhood. In addition, these boys had hypohydrosis, coarse hair with an upswept frontal hairline, failure to thrive, and chronic pulmonary disease. The older boy also had corneal dystrophy and marked photophobia. A punch biopsy specimen from the 11-year-old showed melanophages and necrotic keratinocytes. Stains for amyloid were negative. The sister, age 2 years, had congenital linear hyperpigmented patches involving the intertrigenous areas, but was otherwise normal. The clinical findings of these children were consistent with X-linked reticulate pigmentary disorder with systemic manifestations. We present a summary of the clinical manifestations of this rare disorder and discuss efforts to identify the causative gene.

Child↗
PubMed2005

Hypomelanosis of Ito and Moyamoya disease.

Moyamoya disease is a cerebrovascular disease characterized by stenosis and occlusion of the arteries of the circle of Willis, with abnormal telangiectatic collateral circulation at the base of the brain. An association between moyamoya disease and neurofibromatosis 1, a neurocutanoeus disorder, is well established in the literature. However, its association with other neurocutaneous syndromes is infrequently reported. Hypomelanosis of Ito, another neurocutaneous syndrome, is characterized by macular hypopigmented skin whorls and variable neurologic involvement. Only one case study of an association between hypomelanosis of Ito and moyamoya disease has been reported in the English literature. We report a 17-year-old girl with both hypomelanosis of Ito and angiographic moyamoya disease. She presented with intractable seizures, progressive left hemiparesis, and skin manifestations of hypomelanosis of Ito. Although one might consider a coincidental association, this second case points to an association between the two disorders. Detailed neuroimaging, in particular angiography, should be considered in children with hypomelanosis of Ito and abnormal neurologic findings.

Adolescent↗
PubMed1999

A child with hemimegalencephaly, hemihypertrophy, macrocephaly, cutaneous vascular malformation, psychomotor retardation and intestinal lymphangiectasia--a diagnostic dilemma.

Although the clinical delineation of the majority of overgrowth syndromes is straightforward, we believe there is a subset of patients with overlapping features from a number of overgrowth syndromes. We report a patient with hemimegalencephaly, hemihypertrophy, macrocephaly, vascular lesions, psychomotor retardation and intestinal lymphangiectasia. The clinical history and findings posed a diagnostic dilemma as the features overlapped between several conditions, namely macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC), Klippel-Trenaunay-Weber syndrome (KTWS), Proteus syndrome and a provisional unique syndrome described by Reardon et al. (1996, Am J Med Genet 66:144-149). We anticipate that only when the molecular basis is delineated will it become clear whether these disorders are separate entities or merely differing ends of the same spectrum.

Abnormalities, Multiple↗
PubMed1991

Yellow nail syndrome: a perspective.

The Yellow Nail syndrome is an unusual lymphangitic disorder classically characterized by the presence of nail discoloration, lymphedema and pleural effusion. Since the recognition of the significance of these associated physical findings, four cases have been diagnosed at our institution in the last six years. This suggests that the syndrome may not be as rare as previously reported in medical literature. More often it may remain unrecognized in the absence of the classic triad of physical findings. To heighten awareness of this disorder, we describe our most recent patient diagnosed with YNS and provide a review of the current medical literature.

Female↗