1/24. Outcome after surgical repair of junctional epidermolysis bullosa-pyloric atresia syndrome: a report of 3 cases and review of the literature.BACKGROUND: Junctional epidermolysis bullosa-pyloric atresia syndrome is recognized as a distinct autosomal recessive entity. Affected infants present with skin fragility and inability to feed due to intestinal obstruction. Despite successful surgical repair of the anatomical defect, the outcome is poor owing to poor feeding, malabsorption, failure to thrive, and sepsis. OBSERVATIONS: In 70 cases of intestinal obstruction and epidermolysis bullosa reported in the medical literature and the 3 reported here, surgical intervention was attempted 51 times. In all except 16 infants, death occurred before age 11 months (mean age, 70 days). Renal involvement and continued failure to thrive accompanied the skin disease in survivors, who ranged in age from 30 days to 16 years (mean age, 4.0 years). CONCLUSIONS: The poor prognosis of this condition must be considered when decisions are made regarding surgical correction. Attempting surgical correction may be warranted in individual circumstances, but withholding surgical intervention and providing palliative support is an acceptable alternative.- - - - - - - - - - ranking = 1keywords = skin disease (Clic here for more details about this article) |
2/24. Post-apopletic trigeminal trophic syndrome.Trigeminal trophic syndrome is an uncommon clinical entity in which cutaneous trophic ulceration develops with continuous manipulation of trigeminal dermatomes. patients spontaneously refer picking, rubbing and/or scratching at the affected areas because of hypo-anaesthesia, paraesthesia and/or pain following damage of the sensory trigeminal fibres or nuclei. We herein describe a patient who developed the syndrome as a sequela of brain stem infarction. diagnosis by scrape cytology in ruling-out basal cell carcinoma and other ulcerative skin diseases is discussed and the importance of neurological examination in disclosing hemi-anaesthesia of trigeminal dermatome(s) is emphasized.- - - - - - - - - - ranking = 1keywords = skin disease (Clic here for more details about this article) |
3/24. Hypoplastic thyroid, growth hormone deficiency, corneal opacities, cataract and hyperkeratotic skin disease: a possible new ichthyosis syndrome associated with endocrinopathies.A 56 year old man presented with ichthyosis vulgaris since early childhood, clinically characterised by fine scaling of the trunk and hyperkeratotic scales on the exterior surfaces of the upper and lower extremities. The patient also showed hypothyroidism due to hypoplastic thyroid, cataract, hypercholesterinemia with concommitant arcus cornealis and biliary concrements. Renal lithiasis caused by calcio-oxalate was additionally present. Endocrinological screening revealed growth hormone deficiency in the 1.55 m tall man-(secondary) osteoporosis was observed. The clinical symptomatology indicates that this case cannot be considered as a subtype of the inherited ichthyosis group, but suggests a new syndrome as a separate nosologic entity.- - - - - - - - - - ranking = 4keywords = skin disease (Clic here for more details about this article) |
4/24. Coexistence of bullous pemphigoid, vitiligo, and thyroid disease: a multiple autoimmune syndrome?Bullous pemphigoid is the most common autoimmune blistering skin diseases. The significance of the association of bullous pemphigoid with other autoimmune diseases is still unknown. There have been reports of an association with many autoimmune skin diseases. We report the simultaneous occurrence of bullous pemphigoid and thyroid disease in a 76-year-old patient who also suffered from vitiligo. It is possible that there is a common underlying pathogenic mechanism involved in the co-existence of these three diseases. The association adds to the documentation of bullous pemphigoid co-existing with other autoimmune disorders. This association is probably not fortuitous and suggests a pathogenic relationship.- - - - - - - - - - ranking = 2keywords = skin disease (Clic here for more details about this article) |
5/24. Acute pancreatitis in a young girl with the netherton syndrome.Acute pancreatitis is uncommon in children younger than 15 years. We present the first report on the association of acute pancreatitis with the netherton syndrome. The netherton syndrome is an inherited skin disease characterized by ichthyosiform erythroderma, a pathognomonic hair shaft defect ("bamboo hair"), and atopic features. A 14-year-old girl with symptoms and signs of severe acute pancreatitis was admitted to our department. A diagnostic workup could not reveal any common known cause of pancreatitis, and the cause of pancreatitis would most likely be considered idiopathic. However, based on recent reports regarding various pathophysiological mechanisms for both acute pancreatitis and the netherton syndrome (eg, shearing the 5q locus for the respective gene-associated defects in SPINK1 and SPINK5), we speculate if a possible association may exist. Investigations on pancreatitis and the netherton syndrome may disclose factors closely involved in the pathomechanisms of both. This notion may be of clinical importance as it adds to the number of potential life-threatening events to patients with the netherton syndrome.- - - - - - - - - - ranking = 1keywords = skin disease (Clic here for more details about this article) |
6/24. Peculiarities of PAPA syndrome.OBJECTIVES: To describe a family from new zealand with the pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome, an autoinflammatory, variably expressed, erosive destructive form of arthritis. methods: Information was gained through medical records and interviews of the affected patients and wider family. dna sequencing was performed at Seay Center for Musculoskeletal research texas Scottish Rite Hospital for Children. RESULTS: Five patients were affected over three generations with an E250Q mutation found on the CD2BP1 gene on chromosome 15. Common features included a severe, pauciarticular-onset, destructive peripheral arthritis, beginning at ages 5, 5, 2, 3 and 1(1/2) years. This combination marked cervical ankylosis (in two members), micrognathia and a more severe phenotype is unique. A third-generation family member treated early with DMARDs is following a less severe course. The skin involvement was variable, all with degrees of acne from puberty, though only one patient displayed pyoderma gangrenosum. A clear pattern of the arthritis switching off in adolescence and the triggering of skin disease was observed. CONCLUSIONS: Differing degrees of joint destruction, and cervical ankylosis in this family with the E250Q mutation demonstrate PAPA syndrome's variable expression. Further understanding of this rare condition and its pathway may allow better targeting of treatments, not just for families with this specific syndrome but also for other, more common, forms of arthritis.- - - - - - - - - - ranking = 1keywords = skin disease (Clic here for more details about this article) |
7/24. Severe dapsone hypersensitivity syndrome.dapsone, a potent antiparasitic and anti-inflammatory compound, is mainly used in the treatment of leprosy and a variety of blistering skin diseases. It may cause a severe adverse drug reaction with multiorgan involvement known as dapsone hypersensitivity syndrome. We report the case of a 21-year-old female patient with dapsone hypersensitivity syndrome. The clinical presentation mimicked a viral exanthema.- - - - - - - - - - ranking = 1keywords = skin disease (Clic here for more details about this article) |
8/24. Syndrome of severe skin disease, eosinophilia, and dermatopathic lymphadenopathy in patients with HTLV-II complicating human immunodeficiency virus infection.Two intravenous drug users dually infected with human immunodeficiency virus type 1 (hiv-1) and human T-cell leukemia virus type II (HTLV-II) developed an unusual severe dermatitis characterized by progressive brawny induration, fissuring, and ulceration of the skin, with an associated CD8 cell infiltration in one patient. Both patients had persistent eosinophilia. lymph node biopsy revealed dermatopathic lymphadenopathy, an unusual pathologic finding in hiv-1 infection but one seen in association with mycosis fungoides and other skin disorders. Two new isolates of HTLV-II virus were established from these patients and were identified as HTLV-II by Southern blotting. This type of skin disease and lymph node pathology has not been found in other intravenous drug users who have been infected with hiv-1 alone or in patients in other risk groups for hiv-1 infection. HTLV-II may play a role in this unique new disease pattern in patients infected with hiv-1.- - - - - - - - - - ranking = 5keywords = skin disease (Clic here for more details about this article) |
9/24. Unfading acral microlivedo. A discrete marker of thrombotic skin disease associated with antiphospholipid antibody syndrome.Small erythematous or cyanotic lesions on the hands and feet of four patients with antiphospholipid antibodies are described. These discrete lesions outline capillaries and do not disappear when pressure is applied. The histologic features are identical to those described in skin thrombotic syndrome associated with antiphospholipid antibodies, that is, microthrombi in dermal vessels without inflammation. In addition to indicating antiphospholipid antibodies in apparently healthy patients, this sign could be a marker of risk for large-vessel thrombosis.- - - - - - - - - - ranking = 4keywords = skin disease (Clic here for more details about this article) |
10/24. Pleural effusions in an overlap syndrome of idiopathic hypereosinophilic syndrome and erythema elevatum diutinum.We report a patient with idiopathic hypereosinophilic syndrome presenting with bilateral eosinophilic pleural effusions. He also had erythema elevatum diutinum, a rare skin disease of the vasculitic type. No cardiomyopathy was present. Pleural effusions, skin lesions, and blood eosinophilia disappeared with prolonged corticosteroid treatment.- - - - - - - - - - ranking = 1keywords = skin disease (Clic here for more details about this article) |
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