Showing papers on "Keratoderma published in 2011"

Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma.

Abstract: Two sons of a consanguineous marriage developed biventricular cardiomyopathy. One boy died of severe heart failure at the age of 6 years, the other was transplanted because of severe heart failure at the age of 10 years. In addition, focal palmoplantar keratoderma and woolly hair were apparent in both boys. As similar phenotypes have been described in Naxos disease and Carvajal syndrome, respectively, the genes for plakoglobin (JUP) and desmoplakin (DSP) were screened for mutations using direct genomic sequencing. A novel homozygous 2 bp deletion was identified in an alternatively spliced region of DSP. The deletion 5208_5209delAG led to a frameshift downstream of amino acid 1,736 with a premature truncation of the predominant cardiac isoform DSP-1. This novel homozygous truncating mutation in the isoform-1 specific region of the DSP C-terminus caused Carvajal syndrome comprising severe early-onset heart failure with features of non-compaction cardiomyopathy, woolly hair and an acantholytic form of palmoplantar keratoderma in our patient. Congenital hair abnormality and manifestation of the cutaneous phenotype in toddler age can help to identify children at risk for cardiac death.

Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes

Abstract: Desmoplakin is an important cytoskeletal linker for the function of the desmosomes. Linking desmoplakin to certain types of cardiocutaneous syndromes has been a hot topic recently. Skin fragility-woolly hair syndrome is a rare autosomal recessive disorder involving the desmosomes and is caused by mutation in the desmoplakin gene (DSP). We report five members from a large family with skin fragility-woolly hair syndrome. The index is a 14-year-old girl with palmoplantar keratoderma, woolly hair, variable alopecia, dystrophic nails, and excessive blistering to trivial mechanical trauma. No cardiac symptoms were reported. Although formal cardiac examination was not feasible, the echocardiographic evaluation of the other two affected younger siblings was normal. Homozygosity mapping and linkage analysis revealed a high LOD score region in the short arm of chromosome 6 that harbors the DSP. Full sequencing of the DSP showed a novel homozygous c.7097 G>A (p.R2366H) mutation in all affected members, and the parents were heterozygous. This is the report of the third case/family of the skin fragility-woolly hair syndrome in the literature. We also present a clinical and molecular review of various desmoplakin-related phenotypes, with emphasis on onset of cardiomyopathy. The complexity of the desmoplakin and its variable presentations warrant introducing the term 'desmoplakinopathies' to describe all the phenotypes related to defects in the desmoplakin.

Cardiomyopathy with alopecia and palmoplantar keratoderma (CAPK) is caused by a JUP mutation

Abstract: Inherited desmosomal cardiocutaneous syndromes are characterized by the quartet of woolly hair, palmoplantar keratoderma (PPK), skin fragility and cardiac abnormalities, which are caused by mutations in genes coding for desmosomal proteins. We describe a previously unrecognized autosomal recessive syndrome in a family with arrhythmogenic right ventricular cardiomyopathy associated with alopecia and PPK (named CAPK). Genetic investigation of the family led us to find a homozygous disease-causing mutation, p.R265H, in JUP which encodes plakoglobin, a well-described member of the desmosome complex. This study expands the clinical spectrum of disorders associated with germline mutations affecting desmosomal proteins by describing a novel phenotype.

Circumscribed palmar hypokeratosis on both hands: distinct keratin expression in multiple depressed lesions.

Abstract: usually composed of spindle cells. Monomorphic epithelioid morphology as in our case is extremely unusual, and must be distinguished from epithelioid cell malignant tumours such as carcinoma, epithelioid haemangioendothelioma or angiosarcoma and melanoma. An accurate diagnosis may be impossible unless reliable immunohistochemistry is available and particularly HHV-8 nuclear immunostaining of tumour cells. Additional support may be obtained through the PCR identification of HHV-8 viral sequences in the skin lesions, although immunohistochemistry or in situ hybridization are the best techniques in this setting as they can localize HHV8 labelling specifically in tumour cells and not in normal or inflammatory cells. This evolutionary pattern, and particularly the progressive loss of HHV-8 immunoreactivity in a monomorphic pure epithelioid tumour, has not been to our knowledge previously described in the literature. Because anaplasia means loss of differentiation, our case is paradigmatic of the progressive morphological and functional dedifferentiation of KS, and supports both the appropriateness of the term ‘anaplastic’ and the value of HHV-8 immunostaining as a marker of evolving dedifferentiation for this unusual subtype of KS.

Vörner type palmoplantar keratoderma: novel KRT9 mutation associated with knuckle pad-like lesions and recurrent mutation causing digital mutilation

Abstract: Epidermolytic palmoplantar keratoderma, Vörner type (EPPK, OMIM 144200) is an autosomal dominantly inherited skin disease caused by mutations in the keratin 9 gene (KRT9) and rarely in the keratin 1 gene. This condition is characterized by diffuse yellow thickening of the skin of the palms and soles, sharply offset by erythematous margins. Histopathologically, EPPK presents the characteristic features of epidermolytic hyperkeratosis. This report concerns two Japanese EPPK families with associated characteristic cutaneous manifestations: knuckle pad-like lesions associated with a novel nonsense KRT9 mutation and digital mutilation caused by a recurrent KRT9 mutation. The proband of family 1 was a 12-year-old Japanese girl presenting with hyperkeratosis of palms and soles since soon after birth (Fig. 1a). Hypertrophic plaques with erythema were noted on the dorsal aspects of the distal phalanges of the hands (Fig. 1a, lower panel). Similar lesions, but to a lesser extent, were seen on the toes (not shown). No other family members were affected. Histopathology showed epidermolytic hyperkeratosis with large irregular keratohyaline granules and vacuolization of keratinocytes in the upper spinous and granular layers (not shown). The proband of family 2 was a 58-year-old Japanese woman presenting with hyperkeratosis of palms and soles that developed soon after birth. Her father and elder sister had similar hyperkeratotic skin changes. In the second decade of her life, t‘he proband first noted that the fifth toes felt mildly constricted. Since then, the constriction gradually progressed with accompanying numbness of the fifth toes. When she was 50 years old, the constricted fifth toes became detached spontaneously with no traumatic aetiology (Fig. 1b, arrows). Slight constriction of the finger joints of the proband was observed, especially of the middle interphalangeal joints (Fig. 1b, arrowheads). The other affected individuals did not show any constrictive changes in their fingers or toes nor any knuckle pad-like lesions. Histopathology indicated epidermolytic hyperkeratosis with vacuolization of the granular layer (not shown). Genomic DNA samples extracted from the probands and their family members were subjected to mutation analyses. In the probands, all the KRT9 exons and their flanking exon ⁄ intron junctions were amplified by polymerase chain reaction (PCR) and the PCR products were directly sequenced. Mutational analysis revealed a C-to-T transition at nucleotide position 1282 (c.1282C>T) in exon 6 of KRT9 in the proband of family 1 (Fig. 2a), but not in the healthy parents, suggestBJD British Journal of Dermatology

Arrhythmogenic Dilated Cardiomyopathy Due to a Novel Mutation in the Desmoplakin Gene

Abstract: The authors describe an 11-year-old girl who presented with congestive heart failure due to arrhythmogenic dilated cardiomyopathy. She had curly, woolly hair since birth and palmoplantar keratoderma. Molecular genetic analysis of the desmoplakin gene revealed that she was homozygous for the c.3901C>T (p.Gln1301X) change in exon 23 of the desmoplakin (DSP) gene, confirming the diagnosis of Carvajal disease. As per the Arrhythmogenic Right Ventricular Dysplasia/ Cardiomyopathy Genetic Variants Database, this is a novel mutation. She was managed with diuretics, enalapril, carvedilol and amiodarone, is presently stable, and on regular follow-up. Carvajal disease is a rare cardiocutaneous disorder and few cases have been reported in the literature. The authors review the published cases of the Naxos-Carvajal phenotype from India. Pediatricians need to be aware of this clinical entity whenever arrhythmogenic dilated cardiomyopathy is associated with woolly hair and/or palmoplantar keratoderma.

Cardiofaciocutaneous syndrome in a mother and two sons with a MEK2 mutation.

Abstract: Introduction Cardiofaciocutaneous (CFC) syndrome is a heterogeneous disorder characterized by craniofacial and ectodermal anomalies, congenital heart defects and learning difficulties. It is one of a group of genetic syndromes associated with germline mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway (Tidyman and Rauen, 2009). Four genes have been associated with CFC syndrome: BRAF, KRAS, MEK1 and MEK2. CFC syndrome is a recognized autosomal dominant condition, but until recently all cases were reported as sporadic, with no familial inheritance. However, Rauen et al. (2010) have now documented the first vertically transmitted MEK2 mutation through four generations of a family, segregating with those family members who have phenotypic features of CFC syndrome.

Palmoplantar keratoderma: treatment with CO2 laser case report and review of the literature.

Abstract: Palmoplantar keratoderma is a heterogeneous group of disorders affecting keratinization on the palms and soles of the feet. The benign lesions cause pain and limit function. Treatment of palmoplantar keratoderma remains problematic and restricted to symptomatic therapy; no cure exists. Medical treatments and surgical excision are currently the mainstay of therapy; however, these treatments have limited success, significant morbidity, and recurrence is common. We present a case report of successful treatment with CO2 laser therapy and a review of the literature.

A new variant of Vohwinkel syndrome: a case report.

Abstract: Vohwinkel syndrome (mutilating and diffuse palmoplantar keratoderma) is associated with various extracutaneous features including icthyosis and deafness. Its mode of inheritance is autosomal dominant with mutation in loricrin and Connexin 26 genes. Here we report a mutilating and focal palmoplantar keratoderma in two siblings with congenital hypotrichosis and probably autosomal recessive inheritance that appears to be a new variant of Vohwinkel syndrome.

Helen Ollendorff Curth and Curth-Macklin Syndrome

Abstract: Helen Ollendorff Curth (1899-1982), is one of the pioneers in dermatology. In 1954, she and Madge Thurlow Macklin (1893-1962), an American medical geneticist, reported, a rare congenital genodermatosis that was later known as Curth-Macklin syndrome. This syndrome is a rare autosomal dominant skin disorder characterized by extensive hyperkeratosis and palmo-plantar keratoderma. This report shed light on Helene Ollendorff Curth and the Curth-Macklin syndrome.

Case for diagnosis. Acrokeratoelastoidosis.

Abstract: Acrokeratoelastoidosis is a type of palmoplantar keratoderma first described by Oswaldo Goncalves Costa, a Brazilian Dermatologist from the state of Minas Gerais. It is a rare autosomal-dominant genodermatosis; however it may occur sporadically. The disease is not congenital; rather, its onset occurs in childhood or adolescence. Clinically, the condition is characterized by multiple yellowish papules, sometimes glossy and keratotic, measuring approximately 2-4 mm in diameter, sometimes umbilicated, and located symmetrically on the sides of the hands and feet, symmetry being the most typical sign. The most common histopathological findings are hyperkeratosis, mild acanthosis and elastorrhexis, as revealed by orcein staining.

Pachydermatous eosinophilic dermatitis.

Abstract: A case is presented of a female Caucasian patient with chronic peripheral blood eosinophilia and unusual skin manifestations. Within a couple of years, the patient developed multiple hyperkeratotic and hyperpigmented papules and plaques all over the body, palmoplantar keratoderma, pachydermia of acral parts of the body, and generalized pruritus. Generalized lymphadenopathy appeared. Other relevant symptoms were persistent peripheral blood hypereosinophilia and increased level of total IgE. The patient was diagnosed with a very rare condition, pachydermatous eosinophilic dermatitis, and was administered combined therapy with dapsone, oral methylprednisolone and fexophenadine. After one month of treatment, the skin changes markedly improved.

Acanthosis nigricans associated with transitional cell carcinoma of the urinary bladder.

Abstract: An elderly man from the region of Ladakh presented with recurrent episodes of lower respiratory tract infection, rapidly progressive Acanthosis nigricans, Acanthosis palmaris and plantar keratoderma. Detailed investigations revealed underlying metastatic transitional cell carcinoma of the bladder. This case is being reported for its rarity in the literature.

Haim Munk syndrome: report of two siblings of northern India treated with acitretin.

Abstract: Haim Munk Syndrome (HMS) is the allelic mutation of exon 6 codon in cathepsin C gene. Here, we present two cases of same family with HMS having all the cardinal features of HMS which includes palmo plantar keratoderma and periodontitis along with arachnodactyly, acroosteolysis, onychogryphosis, and marked osteopenia on hand wrist radiographs. Both the siblings were treated with cotrimoxazole, acetretin and topical keratolytics and followed up over a period of one year, showed remarkable improvement in palmo plantar keratoderma and periodontitis.

Symmetric acral keratoderma: 9 case reports

Abstract: Objective To investigate the relevant risk factors for,clinical manifestation and treatment responses of symmetric acral keratoderma in 9 patients.Methods Clinical data were collected from 9 outpatients with symmetric acral keratoderma.Skin lesions were photographed,tissue specimens were obtained from the lesions and subjected to fungal and histopathological examinations.The patients were given topical treatment.Results There were 8 males and 1 female in these patients with an average age of 28.2 years and age at onset of 24.6 years.The disease duration varied from 2 months to 16 years.The lesions were predominantly distributed on the dorsum of both hands and wrists symmetrically and circularly.Ankles were the third popular site involved.Generally,the lesions were aggravated in summer,spontaneously cured in winter.Most of the patients had a history of occupational contact with plastics or rubber.Some patients suffered from ichthyosis vulgaris.Microscopic examination for fungal element was negative.Histopathology revealed epidermal hyperkeratosis,acanthosis and mild papillomatosis.The urea and Vitamin E cream mixed with clobetasol propionate cream at a ratio of 1 ∶ 1 proved to be effective.Conclusions Ichthyosis vulgaris may be a risk factor for symmetric acral keratoderma.The whitening of lesions after short exposure to water may be a kind of physical phenomenon with the involvement of water and air.Topical steroids may serve as the first-line treatment choice for symmetric acral keratoderma.

[Hyalinosis cutis et mucosae : 5 cases from Tabarka (Tunisia)].

Abstract: Background Hyalinosis cutis et mucosae (HCM), is a rare autosomal recessive genodermatosis. Cutaneous features are characteristic and allow to suspect diagnosis. Aim To report a series of HCM. Methods A retrospective study of all cases of HCM, diagnosed in a dermatology department over a period of 25 years (1983-2007). Results Over the considered period, 5 new cases of HCM were diagnosed. Patients were aged between 14 and 41 years. They were 3 females and 2 males. All patients were native of Tabarka (northwestern Tunisia). The age of the onset of the disease varied from neonatal period to 5 years. Hoarseness was the first clinical manifestation in all cases. Skin lesions developed between the ages of 3 and 8 years. Vesiculobullous lesions were observed in 2 patients. Moniliform blepharosis was seen in all patients. Warty and hyperkeratotic papules were observed in 3 patients. Diffuse thickening of the skin was seen in 3 patients. Lesions were primarily distributed on the face. All patients presented diffuse scars. Linear palmoplantar keratoderma was seen in one patient. Asymptomatic endocranial calcifications were noted in 4 patients. A pituitary adenoma was noted in one patient. Histopathological examination of a skin lesion revealed a typical pattern of HCM. Two patients were treated with systemic retinoids without improvement. Conclusion We reported five new cases of HCM. All patients were native from Tabarka. We report also one case of linear palmar keratoderma associated with HCM. This association was not reported in the literature. Finally, the association HCM-pituitary adenoma, seen in one patient, may be fortuitous.

Queratodermia palmoplantar de Unna Thost. Presentación de un caso Unna Thost Keratoderma palmoplantar . A Case Report

Abstract: The case of a 37 years old, black skinned, male patient who attended Dermatology Consultation in his health area is presented. The patient had skin lesions on the palms of his hands and the soles of his feet. He stated that these injuries had worsened with time. Eventually they became hyperkeratotic lesions affecting the knuckles and the knees. The patient also presented a deformity of his fingernails resembling a parrot's beak that produced pain and moderate hyperhidrosis. A diagnosis of diffuse orthokeratotic Thost-Unna keratoderma was completed. This keratoderma occurs in one out of every 40 000 people and is hereditary. Because it is such an uncommon presentation with biological implications, psychological impact and work impediments, that requires a specific medical monitoring, it was decided to present this case to be published.