scholarly journals Gastrointestinal Involvement in Lipoid Proteinosis: A Ten-Year Follow-Up of a Brazilian Female Patient

2014 ◽  
Vol 2014 ◽  
pp. 1-4 ◽  
Author(s):  
Juliana Custódio Lima ◽  
Cristiane Kibune Nagasako ◽  
Ciro Garcia Montes ◽  
Irene Harumi Kamata Barcelos ◽  
Rita Barbosa de Carvalho ◽  
...  
Keyword(s):  
Female Patient ◽  
Autosomal Recessive ◽  
Skin Lesions ◽  
Gastrointestinal Involvement ◽  
Internal Organs ◽  
Radiologic Findings ◽  
Lipoid Proteinosis ◽  
Rare Autosomal Recessive Disease ◽  
Typical Skin

Lipoid proteinosis is a rare autosomal recessive disease characterized by the deposition of hyaline material in the skin and internal organs. The main clinical features are hoarseness and typical skin lesions. In this report we describe the endoscopic and radiologic findings in a Brazilian female patient presenting extensive gastrointestinal involvement and the evolution of the detected lesions in ten years of follow-up. Initial upper endoscopy and colonoscopy showed a similar pattern of multiple yellowish nodules throughout the esophagus, stomach, duodenum, and colons. Histological analysis confirmed the diagnosis of lipoid proteinosis. In addition, small bowel follow through demonstrated numerous well defined, round, small filling defects throughout the jejunum. Ten years later, the esophageal lesions remained the same, but none of the previous alterations were detected in the stomach, duodenum, and colons. In conclusion, lipoid proteinosis may affect all gastrointestinal organs with the same pattern of macroscopic and microscopic lesions. Some lesions may regress with increasing age.

scholarly journals Acitretin Treatment for Lipoid Proteinosis

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Özgür Gündüz ◽  
Neriman Şahiner ◽  
Pınar Atasoy ◽  
Çağrı Şenyücel
Keyword(s):  
Respiratory Tract ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Clinical Importance ◽  
Histological Evaluation ◽  
Upper Respiratory Tract ◽  
Cutaneous Lesions ◽  
Lipoid Proteinosis ◽  
Upper Respiratory ◽  
Rare Autosomal Recessive Disease

Lipoid proteinosis (LP) is a rare, autosomal-recessive disease characterized by the hoarseness and widespread cutaneous scarring, more prominent on sun-exposed areas. Yellow-white plaques can be seen on oral mucosa and on the skin among depressed scars. Histological evaluation of the affected sites shows accumulation of hyaline-like material in dermis and disruption of basement membrane. Although LP is compatible with normal life expectancy, involvement of upper respiratory tract may endanger patient's life, especially in the case of a respiratory tract infection. Involvement of central nervous system has also been reported, but its clinical importance is obscure. Due to the rarity of LP, a definite therapeutical approach is not established. In this paper we describe a 21-year-old LP patient who was treated with acitretin for six months. Although the outcome with cutaneous lesions was not satisfactory, her hoarseness was significantly improved.

scholarly journals Determination of the Carnitine and Acylcarnitine Profile in Patients with Lipoid Proteinosis

2019 ◽  
Author(s):  
Ataman Gönel ◽  
Ismail Koyuncu ◽  
Mustafa Aksoy ◽  
Hakim Celik
Keyword(s):  
Autosomal Recessive ◽  
Storage Disease ◽  
Lysosomal Storage ◽  
Serum Samples ◽  
Internal Organs ◽  
Lipoid Proteinosis ◽  
Acylcarnitine Profile ◽  
Mucous Membranes ◽  
Healthy Control

Background and objectives: Lipoid proteinosis (LP) is an autosomal recessive transfer lysosomal storage disease, characterised by the accumulation of hyalin substance in the mucous membranes, skin, internal organs and brain, for which there is no biochemical diagnostic method. The aim of this study was to determine the carnitine and acylcarnitine metabolic profile with LC-MS/MS in LP patients and thereby examine the potential of this as a new biochemical method in the determination of biochemical markers in LP patients. Materials and Methods: In this study, 27 carnitine and acylcarnitine esters were measured with LC-MS/MS in serum samples taken from 14 healthy control subjects and 14 patients who presented at the Skin and Venereal Diseases Polyclinic and were diagnosed with LP as a result of clinical, radiological and histopathological examinations. Results: The results of the study showed that C0 (free carnitine) C3, C4, C4:DC, C5DC, C6, C8, C14:1, C14:2, C16 and C18 acylcarnitines were statistically significantly reduced in the LP patients (p<0.05, p<0.01). Conclusions: It was concluded that the application of carnitine profile screening, which is an inexpensive, rapid and reliable method, could make a contribution to the differential diagnosis as aa supporting laboratory test in individuals with suspected LP.

CONGENITAL AFIBRINOGENAEMIA: DIAGNOSIS, CLINICAL FEATURES, FOLLOW-UP STUDY

1987 ◽  
Author(s):  
A M JakloyazAy ◽  
Oa H dnagy
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Renal Calculi ◽  
Bleeding Tendency ◽  
Fresh Blood ◽  
Severe Injuries ◽  
Surgical Interventions ◽  
Follow Up Study ◽  
Rare Autosomal Recessive Disease

Authors followed 6 cases of congenital afibrinogenae- mia (CA) by offsprings of two apparently unrelated families from the same village. The sex ratio was4.m/3.f. CA is a rare autosomal recessive disease. Controlling 76 family members authors detected 11 cases of moderate and 2 cases of severe hypofibrinogeneemia.Among them-without any bleeding tendency-the mother of one case and both parents of two siblings with CA*The lack of fibrinogen was confirmed biochemically and immunologically too. The only symptom ofthe Illness are the severe posttraumatic bleeding. They appear as epistax- is, bleeding of the gums, or anyother bleeding aiter minor or severe injuries*Intraarticular bleeding, as in haemophilia rarely occurs inCA. One of our patients had profuse haematurias, causedby renal calculi. The only therapy is the substitution with transfusions of fresh blood, plasma, or fibrinogen concentrates*The rise of posttransfusional lllnisses grows with the number of transfusions*Stomatological or surgical interventions could be performed only after correction of the dotting abnormalitySo, one of our patients was submitted to splenectomyfor spontaneous rupture at 12 years and to nephrectomy for severe pyelo-caliceal cal- culosis with 19.He recovered fully after both interventions but died at 21 years after a bicycle accidenti The five other patients deceased at the age of 5«resp. 10 months and at 6-lo-resp 12 years. In 3 cases there was a subdural hammorrhage, once an intracranial blee- dingCnon autopsiated)and once a severe intraabdoml- nal haemorrhage after an accidental traumatism of the abdominal wall. The care of the CA cases is mostly a pediatric proble. The frequency of the pottraumatic bleeding decrease with the growth*The schoolchildren are paying more attention to avoid injuries

Metabolomics in Lipoid Proteinosis

2020 ◽  
Vol 7 (1) ◽  
pp. 32-41
Author(s):  
Ataman Gonel ◽  
Ismail Koyuncu ◽  
Mustafa Aksoy ◽  
Hakim Celik
Keyword(s):  
Biochemical Markers ◽  
Autosomal Recessive ◽  
Storage Disease ◽  
Lysosomal Storage ◽  
Biochemical Method ◽  
Serum Samples ◽  
Internal Organs ◽  
Lipoid Proteinosis ◽  
Mucous Membranes ◽  
Healthy Control

Background: Lipoid proteinosis (LP) is an autosomal recessive transfer lysosomal storage disease that is characterized by the accumulation of hyalin substance in the mucous membranes, skin, internal organs, and brain. Thus far, no biochemical diagnostic method has been identified. Objective: The aim of this study was to determine the carnitine and acylcarnitine metabolic profiles of LP patients and to examine the potential of LC-MS/MS as a new biochemical method for the identification of biochemical markers. Methods: In this study, 27 carnitine and acylcarnitine esters were measured with LCMS/ MS in serum samples taken from 14 healthy control subjects and 14 patients. The patients, who presented at the Skin and Venereal Diseases Polyclinic, were diagnosed with LP on the basis of clinical, radiological, and histopathological examinations. Results: The results of the study showed that the C0 (free carnitine) C3, C4, C4:DC, C5DC, C6, C8, C14:1, C14:2, C16, and C18 acylcarnitines were statistically significantly reduced in the LP patients (p < 0.05, p < 0.01). Conclusion: It was concluded that the application of carnitine profile screening, an inexpensive, rapid, and reliable method, as a supporting laboratory test could make a contribution to the differential diagnosis for individuals with suspected LP.

scholarly journals Autosomal Recessive Congenital Ichthyosis and Steroid-Resistant Nephrotic Syndrome due to Homozygous Mutation in the ALOX12B gene: A Novel Association with Review of Literature

2020 ◽  
Author(s):  
Lesa Dawman ◽  
Anit Kaur ◽  
Ritambhra Nada ◽  
Soumalya Chakraborty ◽  
Sanjeev Handa ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Autosomal Recessive ◽  
Skin Lesions ◽  
Homozygous Mutation ◽  
Steroid Resistant ◽  
Congenital Ichthyosis ◽  
Autosomal Recessive Congenital Ichthyosis ◽  
Novel Association ◽  
History Of

AbstractNephrotic syndrome (NS) associated with autosomal recessive congenital ichthyosis (ARCI) is a rare association. We describe a 4-year-old boy with steroid-resistant NS (SRNS) who had a history of ichthyotic skin lesions since birth. Renal biopsy revealed focal segmental glomerulosclerosis (tip variant). The skin biopsy was consistent with the findings of ichthyosis. Next-generation sequencing revealed a homozygous pathogenic variant (c.1625_1626del) in the exon 12 of the ALOX12B gene, confirming the diagnosis of ARCI2. The ALOX12B gene belongs to the lipoxygenase family and has a pivotal role in the formation of lipid layers in the epidermis. Leukotrienes have a counter-regulatory effect within the inflamed glomeruli, which influences the vascular tone and glomerular basement membrane permeability, that can be implicated in the pathogenesis of the NS. This child is currently in remission, on tacrolimus and low-dose prednisolone, with emollients and is on regular follow-up. SRNS associated with congenital ichthyosis secondary to a mutation in the ALOX12B gene has never been reported so far. The knowledge regarding this novel association will help the treating physicians in diagnosing this condition early, which will enable proper genetic counseling and prognostication of the disease to the family.

scholarly journals Acrodermatitis Enteropathica: A Case Report

2020 ◽  
Vol 35 (6) ◽  
pp. e201-e201
Author(s):  
Asma Al Naamani ◽  
Tuqa Al Lawati
Keyword(s):  
Case Report ◽  
Clinical Diagnosis ◽  
Zinc Deficiency ◽  
Clinical Manifestation ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Skin Lesions ◽  
Genetic Mutation ◽  
Acrodermatitis Enteropathica ◽  
Rare Autosomal Recessive Disease

Acrodermatitis enteropathica is a rare autosomal recessive disease caused by a genetic mutation leading to zinc deficiency. Clinical manifestation includes skin lesions, diarrhea, and alopecia. We report the case of a two-month-old girl, admitted with erythematous scaly lesions in the neck and vesiculopustular lesions in the perioral region, associated with alopecia and diarrhea. Clinical diagnosis of the disease was made from her first presentation. She was started on zinc therapy and her lesions resolved entirely after one month of treatment.

scholarly journals POS0826 SKIN LIMITED IGA VASCULITIS IN ADULTS

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 666.1-666
Author(s):  
A. Hočevar ◽  
J. Ostrovrsnik ◽  
K. Perdan-Pirkmajer ◽  
M. Tomsic ◽  
Z. Rotar
Keyword(s):  
Clinical Characteristics ◽  
Systemic Disease ◽  
Elevated Serum ◽  
Skin Lesions ◽  
Current Smoker ◽  
P Value ◽  
Symptom Duration ◽  
Iga Vasculitis ◽  
Reactive Protein

Background:IgA vasculitis (IgAV) could be limited to skin or evolve into a systemic disease, affecting characteristically joints, gastrointestinal tract and/or kidneys.Objectives:We aimed to look for differences between adult IgAV patients with disease limited to skin compared to systemic IgAV.Methods:Medical records of histologically proven adult IgAV cases, diagnosed between January 2010 and December 2020 at our secondary/tertiary rheumatology centre were analyzed.Results:During the 132-month observation period we identified 328 new IgAV cases (59.5% males, median (IQR) age 64.3 (45.1; 76.1) years). Ninety-four (40.2%) patients had skin limited disease, and the rest systemic IgAV.Clinical differences between skin limited and systemic adult IgAV are presented in table 1. Adults with IgAV limited to skin were significantly older, had less commonly skin lesions above the waistline and a lower level of C reactive protein compared to patients with a systemic disease. There were no differences in the frequency of skin necroses between the compared IgAV subgroups. The frequency of potential vasculitis triggers (prior infections, new medications, malignancy) was similar between the compared subgroups.Table 1.Clinical characteristics of IgA vasculitis patients with skin limited and systemic diseaseClinical characteristicsSkin limited IgAV (94)Systemic IgAV (234)P valueMale gender (%)54.361.50.263Age (years)*68.0 (55.0-80.5)61.5 (41.7-75.8)0.007Current smoker (%)13.821.80.123Antecedent infection (%)28.733.80.434New medication23.423.51.0History of cancer12.810.70.569Symptom duration (days)*7 (5-21)8 (5-14)0.756Purpura above waistline36.255.60.002Skin necroses (%)52.145.70.329ESR /mm/h) *32 (18-52)34 (17-53)0.873CRP (g/l) *13.5 (1-32)30 (11-68)<0.001Elevated serum IgA (%)50.649.10.892Legend: * median and IQR;Follow up data were available for 250 (76.2%) patients. During the follow up of median (IQR) 12.5 (6.8 – 22.4) months 35 patients relapsed (13/70 (18.6%) with skin limited IgAV and 22/180 (12.2%) with systemic IgAV, p= 0.224).Conclusion:Skin limited IgAV was associated with older age and less extensive skin puprura in adults. However, relapses of purpura were as common as in systemic IgAV.Disclosure of Interests:None declared

scholarly journals Clinical and Forensic Aspects of the Different Subtypes of Argyria

2021 ◽  
Vol 10 (10) ◽  
pp. 2086
Author(s):  
Luís Mota ◽  
Ricardo Jorge Dinis-Oliveira
Keyword(s):  
Systemic Absorption ◽  
Histopathological Analysis ◽  
Wide Range ◽  
Silver Deposits ◽  
Specific Tissue ◽  
Eye Lesions ◽  
Dark Blue ◽  
Typical Skin ◽  
Viable Treatment

Argyria encompasses the different cosmetic alterations that can develop if enough silver particles deposit in a specific tissue, typically in the skin, ranging from localized dark-blue macules to a generalized slate-gray/bluish tinge following systemic absorption. This work aims to fully review the state of the art regarding pathophysiology, diagnosis, treatment, and relevant clinical and forensic features of argyria. Argyria has been diagnosed in a wide range of ages, both sexes and varied ethnicities, with no known individual predisposing factors. Ultraviolet radiation with subsequence increases of melanin production aggravates the discoloration due to a reduction in the silver deposits. Physical examination and silver exposure in the anamnesis can be highly suggestive of the diagnosis, but a histopathological analysis with Energy-Dispersive X-ray Spectroscopy is required to unequivocally determine the discoloration etiology. Safe and effective treatment has only been accomplished with laser techniques, though only a few cases have been reported and with limited follow-up time. In conclusion, argyria typically has an occupational or iatrogenic etiology. It should be suspected when a patient presents with typical skin or eye lesions. A seemingly viable treatment modality, with laser technology, is finally within the horizon.

Ab interno 180-degree trabeculectomy with a dual blade in a patient with refractory primary congenital glaucoma

2021 ◽  
pp. 112067212110104
Author(s):  
Mehmet Talay Koylu ◽  
Fatih Mehmet Mutlu ◽  
Alper Can Yilmaz
Keyword(s):  
Intraocular Pressure ◽  
Female Patient ◽  
Congenital Glaucoma ◽  
Safe Procedure ◽  
Primary Congenital Glaucoma ◽  
History Of ◽  
Kahook Dual Blade ◽  
The Right ◽  
Ab Interno

A 13-year-old female patient with refractory primary congenital glaucoma (PCG) in the right eye who had a history of multiple glaucoma operations underwent ab interno 180-degree trabeculectomy with the Kahook Dual Blade (KDB) targeting the nasal and inferior angles. On postoperative day 1, the intraocular pressure (IOP) of the right eye reduced from 43 to 15 mmHg while on medical therapy. The patient maintained this IOP level throughout the 6-month follow-up. Ab interno KDB trabeculectomy targeting both nasal and inferior angles may be an effective and safe procedure for the treatment of PCG even in eyes with a history of previously failed glaucoma procedures.

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