1/6. Transgrediens et progrediens palmoplantar keratoderma (Greither's disease) with particular histopathologic findings.We describe a patient with transgrediens et progrediens palmoplantar keratoderma (Greither's disease). Ten of the 25 members of this patient's family in six consecutive generations were affected by the disorder. The pedigree was consistent with an autosomal dominant inheritance pattern, with variable penetrance. The proband's physical examination showed typical signs of Greither's disease. The most striking findings were seen in histopathologic study and consisted of round, focal areas of orthohyperkeratosis located on delled areas of the epidermis. These histopathologic features were present in both the lesions of the palms and dorsum of the hands. We review the clinical manifestations and histopathologic findings of this particular variant of palmoplantar keratoderma and the differential diagnosis.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/6. Aquagenic palmoplantar keratoderma.Aquagenic palmoplantar keratoderma is an acquired condition characterized by burning and edema limited to the hands after brief immersion in water. The 3 patients described possess a striking similarity to those with transient reactive papulotranslucent acrokeratoderma. All 3 patients manifested the "hand-in-the-bucket" sign, having presented to a physician with a hand immersed in a bucket of water to more promptly demonstrate the physical findings. aluminum chloride hexahydrate represents a potentially valuable therapeutic option for this unusual condition.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/6. Woolly hair and palmoplantar hyperkeratosis may present with hypertrophic cardiomyopathy.Woolly hair and palmoplantar hyperkeratosis is an infrequent autosomal recessive ectodermal disorder that may be associated with arrhythmogenic right ventricular dysplasia (Naxos disease) or dilated cardiomyopathy. We report the sporadic occurrence of the aforementioned skin-hair anomalies in a patient with physical findings compatible with Noonan's syndrome and hypertrophic cardiomyopathy-an association heretofore not described.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/6. Acrokeratoelastoidosis.A case of acrokeratoelastoidosis (AKE) is reported. A review of the literature has established that at least three clinicopathological entities have been reported under this term. Two of the entities show a combination of hyperkeratosis with fragmentation of dermal elastic tissue, which justifies the designation AKE. The first, for which the term familial AKE is perhaps appropriate, though many cases have been sporadic, begins in childhood or early adult life, and there is no evidence that trauma or light exposure are factors in its production. The second is a more variable clinical syndrome occurring in middle or late adult life, and both physical trauma and light exposure appear to be concerned in its induction. The third syndrome to be reported under the designation AKE shows no abnormality of elastic tissue and appears to be a separate entity.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/6. Successful dietary control of tyrosinemia II.A Japanese girl, 2 years, 8 months of age, with palmoplantar keratosis and dendritic corneal opacities, showed increased tyrosine levels in the plasma, urine, and cerebrospinal fluid. The mental and physical growth was not retarded. The hepatorenal functions were within normal limits. Electron microscopically, the epidermal keratinocytes showed increased tonofibrils and no structures suggestive of tyrosine crystals. cytosol and mitochondrial tyrosine aminotransferase (TAT) activities of the liver were greatly decreased, while p-hydroxyphenyl pyruvate oxidase (p-HPPO) activity was not decreased. The plasma tyrosine levels were controlled for 3 years with low phenylalanine-tyrosine diet.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/6. Keratoderma with pseudo-Quincke's pulse.The physical examination sign known as Quincke's capillary pulse is elicited by pressing lightly on the distal edge of a fingernail. When the vasculature of the nailbed is partly blanched, Quincke's pulse appears as alternating flashes of red and white that reveal arterial pulsations. This sign is seen in many normal persons, but it is most prominent in individuals with widened pulse pressures, such as aortic insufficiency. This case report describes a patient with keratoderma and sclerodactyly whose fingernails exhibited rapid color changes, mimicking Quincke's pulse. The visible pulsations were due to sclerodactylous compression of the nailbeds, and not to any primary hemodynamic process.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |