Ent. 1967
Synospsis
diffuse mesangial sclerosis (DMS)
male sex reversal (male pseudohermaphrosim)
Etiology
constitutional punctual mutations in the WT1 gene (zing-fingers)
References
Management of Wilms tumors in Drash and Frasier syndromes. Auber F, Jeanpierre C, Denamur E, Jaubert F, Schleiermacher G, Patte C, Cabrol S, Leverger G, Nihoul-Fékété C, Sarnacki S. Pediatr Blood Cancer. 2009 Jan;52(1):55-9. PMID: #18816692#
Case report: WT1 exon 6 truncation mutation and ambiguous (...)
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Disease
Articles
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Denys-Drash syndrome
11 February 2004 -
sickle cell disease
31 May 2003Sickle cell anemia lesions in liver, sickle cell hemoglobinopathy, HbS, Sickle cell disease, sickle cell trait ; sickle cell anemia ; SCD
Definition: Sickle cell anemia is caused by substitution of normal hemoglobin (HbA) by hemoglobin S (HbS). When an individual is homozygous for the mutant gene, all the hemoglobin is of the abnormal, HbS, type, and even with normal saturation of oxygen, the disorder is fully expressed (i.e., sickling deformity of all red cells and hemolytic anemia). (...) -
parapsoriasis
15 June 2011WKP
Definition : Parapsoriasis refers to one of a group of skin disorders that are characterized primarily by their resemblance to psoriasis (red, scaly lesions), rather than by their underlying cause. The word "parapsoriasis" was formed in 1902.
Types
large-plaque parapsoriasis
small-plaque parapsoriasis
pityriasis lichenoides pityriasis lichenoides chronica pityriasis lichenoides et varioliformis acuta
lymphomatoid papulosis
Digital slides
UI: - Parapsoriasis
See (...) -
Cowden disease
2 November 2004multiple hamartoma syndrome, Cowden syndrome; PTEN hamartoma tumor syndrome (PHTS).
Definition: Cowden syndrome is a rare autosomal dominant condition named after the Cowden family in which it was initially documented.
Images
Digestive hamartomas with neural and fatty elements, lymphoid aggs
https://twitter.com/CArnold_GI/status/830854075944144898
Manifestations of the syndrome include gastrointestinal, oral and cutaneous hamartomas, tumors of breast and thyroid, autoimmune (...) -
plasma cell dyscrasia
12 December 2003Notes
https://twitter.com/pathodoodles/status/1346450979135356935
See also
plasma cell
dyscrasia -
Bart-Pumphrey syndrome
25 May 2005Bart-Pumphrey syndrome (BPS) is an autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, which show considerable phenotypic variability.
Nosological overlaps
Vohwinkel syndrome
Keratitis-Ichthyosis-Deafness syndrome
Etiology
dominant mutations in the GJB2 gene encoding the gap junction protein connexin-26
References
Richard G, Brown N, Ishida-Yamamoto A, Krol A. Expanding the phenotypic spectrum of Cx26 (...) -
mumps
11 June 2003Like measles virus, mumps virus is a member of the paramyxovirus family. Mumps virus has two types of surface glycoproteins, one with hemagglutinin and neuraminidase activities and the other with cell fusion and hemolytic activities.
Mumps viruses enter the upper respiratory tract through inhalation of respiratory droplets, spread to draining lymph nodes where they replicate in lymphocytes (preferentially in activated T cells), and then spread through the blood to the salivary and other (...) -
progressive familial intrahepatic cholestasis type 3
4 June 2003PFIC-3
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pipecolic acidemia
26 March 2010Pipecolic acidemia (also called "hyperpipecolic acidemia" or "hyperpipecolatemia") is a very rare metabolic disorder that is caused by a peroxisomal defect.
It is characterized by an increase in pipecolic acid levels in the blood, leading to neuropathy and hepatomegaly.
It can be associated with Refsum disease.
See also
PHYH
References
Tranchant C, Aubourg P, Mohr M, Rocchiccioli F, Zaenker C, Warter JM (October 1993). A new peroxisomal disease with impaired phytanic and pipecolic (...) -
del(17)(p13.3)
29 September 200317p13.3 deletion
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