Mosaic epidermolytic ichthyosis - case report

Epidermolytic ichthyosis is a rare autosomal dominant disease that manifests at birth with fragile blisters and erosions that evolve into hyperkeratotic lesions associated or not with erythroderma. When the disease is associated with a mutation in cytokeratin 1, it may be related to hyperkeratosis of palms and soles, but this is not usually found when cytokeratin 10 is mutated. The disease can present in a mosaic form, due to post zygotic mutation of the gene involved, constituting an individual formed by two populations of genetically distinct cells - one carrier of the mutation and the other without it. We report a case of mosaic epidermolytic ichthyosis diagnosed in a female patient.

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Thalidomide as an effective treatment in a case of Osler Weber Rendu syndrome: a case report

Asian Journal of Medical Sciences ◽

10.3126/ajms.v7i4.14554 ◽

2016 ◽

Vol 7 (4) ◽

pp. 107-109

Author(s):

Titli Bandyopadhyay ◽

VT Anand ◽

Dibyendu Gangopadhyay

Keyword(s):

Case Report ◽

Effective Treatment ◽

Hereditary Hemorrhagic Telangiectasia ◽

Autosomal Dominant ◽

Autosomal Dominant Disease ◽

Medical Sciences ◽

Recurrent Epistaxis ◽

Dominant Disease ◽

Vascular Dysplasia

Osler Weber Rendu Syndrome (OWRS), or Hereditary Hemorrhagic telangiectasia (HHT) is an autosomal dominant disease presents with epistaxis, telangiactesia and multiorgan vascular dysplasia. Recurrent epistaxis is common in these patients and various local forms of therapy is tried to treat the condition, but there is lack of definitive and effective treatment. We present a patient of HHT with severe recurrent epistaxis successfully treated with thalidomide.Asian Journal of Medical Sciences Vol.7(4) 2016 107-109

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Zimmerman-Laband Syndrome Oral Manifestations A Case Report

Dental Research and Management ◽

10.33805/2572-6978.116 ◽

2019 ◽

pp. 3-5

Author(s):

Anuna Laila Mathew ◽

Mahima James ◽

Helen Maria

Keyword(s):

Mental Retardation ◽

Case Report ◽

Female Patient ◽

Autosomal Dominant ◽

Permanent Teeth ◽

Oral Manifestations ◽

Gingival Enlargement ◽

Dominant Disease ◽

Life Threatening ◽

Gingival Fibromatosis

Zimmerman-Laband syndrome was reported by Zimmerman in the year 1928 which is a rare inherited autosomal dominant disease characterized by generalized enlargement of the attached and marginal gingiva, abnormalities of nose, ear, deformities of nails, joint hyperextensibility, hepatosplenomegaly, skeletal abnormalities and occasional mental retardation. Idiopathic gingival enlargement is usually evident after the eruption of the permanent teeth. Both sexes are equally affected. Genetic loci for autosomal dominant modes of gingival fibromatosis is localized to chromosome 2p21p22 (HGF-1) and chromosome 5q12-q22 (HGF-2). This syndrome is not a life threatening disorder. Hereditary gingival enlargement is associated with syndromes like Rutherford syndrome, Zimmerman-Laband syndrome, Murray-Puretic-Drescher syndrome, Cross syndrome and Ramon’s syndrome. The most important feature of this syndrome is gingival enlargement appearing early in childhood. Idiopathic gingival enlargement is usually evident after the eruption of the permanent teeth. Surgical correction of gingival fibromatosis is recommended, although there is no information on the permanence of the results of this treatment. We present a case of a 14 year old female patient with Zimmerman-Laband syndrome. Gingivectomy was carried out in the upper and lower anterior region there by exposing the impacted teeth.

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Anesthetic Management of Apert Syndrome: A Case Report

Journal of Institute of Medicine ◽

10.3126/jiom.v43i1.37473 ◽

2021 ◽

Vol 43 (1) ◽

pp. 50-53

Author(s):

Megha Koirala ◽

Gentle S Shrestha ◽

Pankaj Joshi ◽

Bashu D Parajuli

Keyword(s):

Case Report ◽

Autosomal Dominant ◽

Anesthetic Management ◽

Apert Syndrome ◽

Mask Ventilation ◽

Different Types ◽

Dominant Disease ◽

Special Challenge ◽

Bag Mask Ventilation ◽

Rare Autosomal Dominant Disease

Apert syndrome is a rare autosomal dominant disease associated with abnormalities of skull, face and limbs. These patients present for different types of surgeries. To the anesthesiologists,they pose special challenge during airway management, manifesting as difficulty in bag-mask ventilation and increased incidence of airway obstruction. Here, we report a case of a child with Apert syndrome undergoing syndactyly release under general anesthesia, in whom severe bronchospasm and a failed bag-mask ventilation occurred during the emergence of anesthesia requiring re-insertion of laryngeal mask airway.

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Keratoderma Hereditarium Mutilans (Vohwinkel's Syndrome) Associated with Sensorineural Deafness in an HIV Positive Man: A Case Report

European Journal of Inflammation ◽

10.1177/1721727x0300100110 ◽

2003 ◽

Vol 1 (1) ◽

pp. 49-50 ◽

Cited By ~ 1

Author(s):

L. Boccia ◽

M. Perrella ◽

P. Donofrio

Keyword(s):

Case Report ◽

Autosomal Dominant ◽

Sensorineural Deafness ◽

Autosomal Dominant Disease ◽

Hiv Positive ◽

Recessive Type ◽

Dominant Disease

Keratoderma hereditarium mutilans (KHM) or Vohwinkel's syndrome is a rare cutaneous disorder, characterized by thickening of palms and soles and by ainhum-like constrictions of the fingers and toes. KHM is usually inherited as an autosomal dominant disease, but a recessive type has occasionally been described.

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A novel TSC1 variant associated with tuberous sclerosis and sacrococcygeal teratoma

Human Genome Variation ◽

10.1038/s41439-020-00124-8 ◽

2020 ◽

Vol 7 (1) ◽

Author(s):

Saba Ahmad ◽

Luis Manon ◽

Gifty Bhat ◽

Jerry Machado ◽

Alice Zalan ◽

...

Keyword(s):

Tuberous Sclerosis ◽

Tuberous Sclerosis Complex ◽

Cellular Differentiation ◽

Autosomal Dominant ◽

De Novo ◽

Autosomal Dominant Disease ◽

Sacrococcygeal Teratoma ◽

Dominant Disease ◽

The Brain

AbstractTuberous sclerosis complex (TSC) is an autosomal dominant disease associated with tumors and malformed tissues in the brain and other vital organs. We report a novel de novo frameshift variant of the TSC1 gene (c.434dup;p. Ser146Valfs*8) in a child with TSC who initially presented with a sacral teratoma. This previously unreported association between TSC and teratoma has broad implications for the pathophysiology of embryonic tumors and mechanisms underlying cellular differentiation.

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Beneficial effect of lithium in female patient with bipolar affective illness and psoriasis

Pharmacotherapy in Psychiatry and Neurology ◽

10.33450/fpn.2021.05.002 ◽

2021 ◽

Vol 37 (2) ◽

Author(s):

Przemysław Filipiak ◽

Anna Jaskóła ◽

Karolina Gattner

Keyword(s):

Bipolar Disorder ◽

Case Report ◽

Beneficial Effect ◽

Female Patient ◽

Lithium Treatment ◽

The Other ◽

Patient Needs ◽

Affective Illness ◽

First Time

Objectives. Psoriasis makes a relative contraindication for lithium treatment which can exacerbate its symptoms or induce it itself. On the other hand, lithium exerts immuno-modulatory activity. Case study. In this paper, a case of a female patient is presented. The patient has been treated since 2012 for bipolar affective illness (bipolar disorder – BD) and psoriasis, which occurred for the first time during a depressive episode. Despite intensive pharmacological treatment, both as inpatient and outpatient, a satisfactory improvement of affective illness has not been obtained. After the introduction of lithium, a remission of BD was achieved as well as a reduction of psoriatic changes, which have been maintained until now (2021). Conclusion. The remission of Bipolar Disorder (BD) on lithium can suggest that the patient belongs to the group of the so-called excellent lithium responders. In the presented case remission of psoriasis was observed during lithium treatment. This case report must be treated with caution because remission could be spontaneous and the patient needs further observation.

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Genetic counselling in pre-capillary pulmonary hypertension

ESC CardioMed ◽

10.1093/med/9780198784906.003.0602 ◽

2018 ◽

pp. 2558-2560

Author(s):

Barbara Girerd ◽

David Montani ◽

Marc Humbert

Keyword(s):

Pulmonary Hypertension ◽

Pulmonary Arterial Hypertension ◽

Arterial Hypertension ◽

Genetic Counselling ◽

Autosomal Dominant ◽

Autosomal Dominant Disease ◽

Pulmonary Capillary ◽

Dominant Disease ◽

Pulmonary Arterial ◽

Biallelic Mutations

Pre-capillary pulmonary hypertension can be heritable in the context of pulmonary arterial hypertension (an autosomal dominant disease mainly due to mutations in BMPR2), and pulmonary veno-occlusive disease or pulmonary capillary haemangiomatosis (an autosomal recessive disease due to biallelic mutations in the EIF2AK4 gene). Genetic counselling can be implemented in referral centres for pulmonary hypertension as outlined in this chapter.

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Parotid Oncocytoma as a Manifestation of Birt-Hogg-Dubé Syndrome

Case Reports in Radiology ◽

10.1155/2018/6265175 ◽

2018 ◽

Vol 2018 ◽

pp. 1-7

Author(s):

Kazuki Yoshida ◽

Masao Miyagawa ◽

Teruhito Kido ◽

Kana Ide ◽

Yoshifumi Sano ◽

...

Keyword(s):

Magnetic Resonance Imaging ◽

Magnetic Resonance ◽

Autosomal Dominant ◽

Case Reports ◽

Imaging Features ◽

Resonance Imaging ◽

Rare Disorders ◽

Pulmonary Cysts ◽

Dominant Disease ◽

Rare Autosomal Dominant Disease

Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant disease characterized by skin fibrofolliculomas, pulmonary cysts, spontaneous pneumothoraces, and renal cancers. Oncocytomas are benign epithelial tumors that are also rare. Recently, there have been a few case reports of BHD with a parotid oncocytoma that appears to have a BHD phenotype. Here we document the eighth known case and describe the magnetic resonance imaging features of the parotid oncocytoma, which mimicked Warthin’s tumor. Radiologists should be aware of the association between these rare disorders.

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Genotype–Phenotype Correlations in Children with HHT

Journal of Clinical Medicine ◽

10.3390/jcm9092714 ◽

2020 ◽

Vol 9 (9) ◽

pp. 2714 ◽

Cited By ~ 1

Author(s):

Alexandra Kilian ◽

Giuseppe Latino ◽

Andrew White ◽

Dewi Clark ◽

Murali Chakinala ◽

...

Keyword(s):

Pediatric Patients ◽

Autosomal Dominant ◽

Vascular Malformations ◽

Genetic Data ◽

Chi Square ◽

Chi Square Test ◽

Dominant Disease ◽

The Central Nervous System ◽

Age Range ◽

Rare Autosomal Dominant Disease

Hereditary hemorrhagic telangiectasia (HHT), a rare autosomal dominant disease mostly caused by mutations in three known genes (ENG, ACVRL1, and SMAD4), is characterized by the development of vascular malformations (VMs). Patients with HHT may present with mucocutaneous telangiectasia, as well as organ arteriovenous malformations (AVMs) of the central nervous system, lungs, and liver. Genotype–phenotype correlations have been well described in adults with HHT. We aimed to investigate genotype–phenotype correlations among pediatric HHT patients. Demographic, clinical, and genetic data were collected and analyzed in 205 children enrolled in the multicenter Brain Vascular Malformation Consortium HHT Project. A chi-square test was used to determine the association between phenotypic presentations and genotype. Among 205 patients (age range: 0–18 years; mean: 11 years), ENG mutation was associated with the presence of pulmonary AVMs (p < 0.001) and brain VM (p < 0.001). The presence of a combined phenotype—defined as both pulmonary AVMs and brain VMs—was also associated with ENG mutation. Gastrointestinal bleeding was rare (4.4%), but was associated with SMAD4 genotype (p < 0.001). We conclude that genotype–phenotype correlations among pediatric HHT patients are similar to those described among adults. Specifically, pediatric patients with ENG mutation have a greater prevalence of pulmonary AVMs, brain VMs, and a combined phenotype.

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