1/5. Case study: pachyonychia congenita: a mixed type II-type IV presentation.A 52-year-old woman in good health with a family history negative for dermatologic diseases presented to our department with thickening and dystrophy of all her fingernails and toenails that started when she was born. She also had hyperkeratosis on the palms of her hands and soles of her feet that was confined to sites of pressure and recurrent plantar blisters that began appearing at puberty. The patient reported marked pain while walking from such plantar involvement. Her medical history revealed a persistent hoarseness; palmoplantar hyperhidrosis; and the appearance of numerous cysts on her back, neck, and scalp since she was 20 years old. These latter lesions had been diagnosed as multiple steatocystoma on the basis of the histologic features. Upon examination, all of her fingernails and toenails appeared shortened, thickened,and dystrophic (Figures 1-3). In addition, they presented subungual keratosis and a yellowish-gray color. Hyperkeratosis and small ulcerations were present on the perionychium. Palmoplantar keratoderma was evident, especially on the soles,in association with superficial erosions (Figure 4). Keratosis pilaris was evident on the extensor surfaces of the forearms as well as on the anterior surfaces of the legs. Multiple nodules were detected on the patient's neck, trunk, and axillary regions(Figure 5). They consisted of multiplex steatocystoma and were characterized by a hemispheric shape, a normal-appearing skin color, and by an elastic consistency on palpation. Oral and dental changes were not detected, although hair anomalies were evident. Laboratory parameters disclosed eosinophilia and increased total IgE levels. The results of serum protein electrophoresis was normal, as were those concerning hepatic and renal functions. The ophthalmology examination showed neither corneal dyskeratosis nor cataracts. The neurologic-psychiatric visit revealed slight mental retardation.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
2/5. mutation of a type II keratin gene (K6a) in pachyonychia congenita.pachyonychia congenita (PC) is a rare autosomal dominant condition characterized by multiple ectodermal abnormalities. patients with Jadassohn-Lewandowsky syndrome (MIM #167200; PC-1) have nail defects (onchyogryposis), palmoplantar hyperkeratosis, follicular hyperkeratosis and oral leukokeratosis. Those with the rarer Jackson-Lawler syndrome (MIM #167210; PC-2) lack oral involvement but have natal teeth and cutaneous cysts. Ultra-structural studies have identified abnormal keratin tonofilaments and linkage to the keratin gene cluster on chromosome 17 has been found in PC families. keratins are the major structural proteins of the epidermis and associated appendages and the nail, hair follicle, palm, sole and tongue are the main sites of constitutive K6, K16 and K17 expression. Furthermore, mutations in K16 and K17 have recently been identified in some PC patients. Although we did not detect K16 or K17 mutations in PC families from slovenia, we have found a heterozygous deletion in a K6 isoform (K6a) in the affected members of one family. This 3 bp deletion (AAC) in exon 1 of K6a removes a highly conserved asparagine residue (delta N170) from position 8 of the 1A helical domain (delta N8). This is the first K6a mutation to be described and this heterozygous K6a deletion is sufficient to explain the pathology observed in this PC-1 family.- - - - - - - - - - ranking = 1keywords = palm (Clic here for more details about this article) |
3/5. Oral florid papillomatosis and leukoplakia of the esophagus associated with keratoderma and showing transepidermal elimination.A 37-year-old male presented with a cauliflower-like tumor in the right buccal mucosa, leukoplakia of the tongue and esophagus, and keratotic papules or plaques on the extremities including bilateral palms and soles, associated with borderline diabetes mellitus and a repeated history of infections. A multi-system keratinizing abnormality was suspected, although no distinct disease category has been found showing similar involvements.- - - - - - - - - - ranking = 0.5keywords = palm (Clic here for more details about this article) |
4/5. pachyonychia congenita associated with steatocystoma multiplex.We present an unique case of pachyonychia congenita associated with steatocystoma multiplex. A 33-year-old Japanese man had thickening and gray-brown dicoloration of all nails and a large number of nodules or tumors over his entire skin. No palmar and plantar hyperkeratosis, leukokeratosis of the mucous membranes, or follicular keratosis were observed. histology of these tumors revealed the typical features of steatocystoma multiplex.- - - - - - - - - - ranking = 0.5keywords = palm (Clic here for more details about this article) |
5/5. Palmoplantar keratoderma and leukokeratosis anogenitalis: the second case of a new disease.An increasing number of syndromes with palmoplantar keratoderma (PPK) with associated diseases are being identified, representing a wide spectrum of distinct entities. At present only one case report has described the combination of marked anogenital leukokeratosis with diffuse PPK evolving in a collodion baby. We report a patient with a diffuse, nonprogressive PPK in combination with an intermittently pruritic, slowly progressive anogenital leukokeratosis. Hyperkeratosis of the perineal area was most pronounced and extended to the distal portion of the anal mucosa. The opalescent lesion was also visualized at the margin of the major labia. Vulvar structures were not otherwise involved or dystrophic. There were no signs or symptoms of ectodermal dysplasia. Specifically, the nails were normal and showed no signs of pachyonychia congenita. Other differential diagnoses included dyskeratosis congenita and white sponge nevus, which may be associated with anogenital leukokeratosis, but a keratoderma is not associated with these entities. Keratin immunocytochemistry showed marked expression of suprabasal K17 and absence of K6 and K16. Further examination of the initial case described by Itin and Rufli demonstrated the same expression pattern and supports the contention that these two cases represent the same entity.- - - - - - - - - - ranking = 0.5keywords = palm (Clic here for more details about this article) |