Incontinentia pigmenti
"Incontinentia pigmenti. DermNet NZ". The International Incontinentia Pigmenti (IP) Consortium; Smahi, Asmae; Courtois, G; ... incontinentia pigmenti)" [Peculiar, as yet unexplained pigment affection (incontinentia pigmenti)]. Schweizerische medizinische ... Incontinentia pigmenti is caused by a mutation in the IKBKG gene, which encodes the NEMO protein, which serves to protect cells ... Incontinentia pigmenti (IP) is a rare X-linked dominant genetic disorder that affects the skin, hair, teeth, nails and central ...
Incontinentia pigmenti achromians
As opposed to incontinentia pigmenti, hypomelanosis of Ito affects both genders equally. This disorder was first described by ... Incontinentia pigmenti achromians (also known as "hypomelanosis of Ito") is a cutaneous condition characterized by various ... Incontinentia pigmenti achromians. A single case of nevus depigmentosus systematicus bilaterlis". Tohoku J Exp Med. 55 ( ... List of dental abnormalities associated with cutaneous conditions Incontinentia pigmenti List of cutaneous conditions James, ...
Setleis syndrome
... incontinentia pigmenti; oculocerebrocutaneous syndrome; Rothmund-Thomson syndrome; and MLS (microphthalmia with linear skin ...
X-linked dominant inheritance
Ngan V (2005). "Incontinentia pigmenti". DermNet NZ. Incontinentia Pigmenti at eMedicine Dalal AB, Sarkar A, Priya TP, ... Fragile-X Syndrome Most cases of Alport syndrome Incontinentia pigmenti Giuffrè-Tsukahara syndrome Goltz syndrome X-linked ...
List of OMIM disorder codes
MYH2 Incontinentia pigmenti, type II; 308300; IKBKG Infantile neuroaxonal dystrophy 1; 256600; PLA2G6 Inflammatory bowel ...
IKBKG
Incontinentia Pigmenti (IP) is an X-linked dominant disease caused by a mutation in the IKBKG gene. Since IKBKG helps activate ... The International Incontinentia Pigmenti (IP) Consortium". Nature. 405 (6785): 466-72. doi:10.1038/35013114. PMID 10839543. ... Mutations in the IKBKG gene results in incontinentia pigmenti, hypohidrotic ectodermal dysplasia, and several other types of ... "A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and ...
Marion Sulzberger
Ueber eine bisher nicht beschriebene Pigmentaffektion (Incontinentia pigmenti). Arch Dermatol Syph (Berlin) 1928; 154: 19-32 ...
High-arched palate
"Dental and oral anomalies in incontinentia pigmenti: a systematic review". Clinical Oral Investigations. 17 (1): 1-8. doi: ... syndrome Crouzon syndrome Down syndrome Ehlers-Danlos Syndrome Friedreich's ataxia Fragile X syndrome Incontinentia pigmenti ...
PHF10
"Transcriptional analysis of the candidate region for incontinentia pigmenti (IP2) in Xq28". Genome Research. 6 (10): 922-34. ...
TMLHE
"Transcriptional analysis of the candidate region for incontinentia pigmenti (IP2) in Xq28". Genome Research. 6 (10): 922-34. ...
Phakomatosis
Incontinentia pigmenti is X-linked dominant and Sturge-Weber syndrome is sporadic. Some neurocutaneous disorders are found ... For instance, neurofibromatosis types 1 and 2, tuberous sclerosis complex and incontinentia pigmenti have formal diagnostic ... recommendations from a European network for the diagnosis and practical management of patients with incontinentia pigmenti". ...
CLIC2
This gene maps to the candidate region on chromosome X for incontinentia pigmenti. Chloride channel GRCh38: Ensembl release 89 ... 1997). "Transcriptional analysis of the candidate region for incontinentia pigmenti (IP2) in Xq28". Genome Res. 6 (10): 922-34 ...
Linear and whorled nevoid hypermelanosis
The differential diagnoses include incontinentia pigmenti, linear epidermal nevus, hypomelanosis of Ito and Goltz syndrome. ...
David L. Nelson
... homology-driven deletion in the NEMO gene in Incontinentia pigmenti (IP), an X-linked genetic disease. Nelson and other ... "Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti". Nature. 405 (6785): 466-472. ... Selection Against Mutant Alleles in Blood Leukocytes is a Consistent Feature in Incontinentia Pigmenti Type 2. Human Molecular ... gene accounts for the vast majority of incontinentia pigmenti mutations". Human Molecular Genetics. 10 (19): 2171-2179. doi: ...
Lucy Edwards
Edwards lost sight in her right eye at age 11 due to incontinentia pigmenti, a genetic condition; she lost her remaining ...
Genodermatosis
Cases of skin disease that may be inherited in this kind of mode include incontinentia pigmenti, focal dermal hypoplasia and so ...
Rhabdomyosarcoma
... incontinentia pigmenti, and supernumerary nipples". Dermatologic Clinics. 13 (1): 211-229. doi:10.1016/S0733-8635(18)30121-9. ...
Koebner phenomenon
... lines follow embryotic cell migration patterns and are seen in some mosaic genetic disorders such as incontinentia pigmenti and ...
Heterochromia iridum
Incontinentia pigmenti Parry-Romberg syndrome Acquired heterochromia is usually due to injury, inflammation, the use of certain ...
Hypohidrotic ectodermal dysplasia with immune deficiency
"A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and ...
Systemic disease
... and incontinentia pigmenti. Because pitting is caused by defective layering of the superficial nail plate by the proximal nail ...
Dens evaginatus
Patients with Ellis-van Creveld syndrome, incontinentia pigmenti achromians, Mohr syndrome, Rubinstein-Taybi syndrome and ...
NEMO deficiency syndrome
... may present itself as Incontinentia pigmenti or Ectodermal dysplasia depending on the type of genetic ... itself in the form of several different diseases dependent upon mutations of the IKBKG gene such as Incontinentia pigmenti or ... typically present themselves as Incontinetia Pigmenti (IP). Because loss of NEMO function is lethal, only heterozygous females ... or males with XXY karyotype or mosaicism for this gene survive and exhibit symptoms of Incontinetia Pigmenti, such as skin ...
Acheiria
... particularly if unilateral Cornelia de Lange syndrome Fetal hydantoin syndrome Incontinentia pigmenti Weerakkody, Dr Yuranga; ...
Epileptic spasms
Furthermore, other causes increasingly being named in the literature are: Incontinentia pigmenti Foix-Chavany-Marie syndrome ...
Talon cusp
Incontinentia pigmenti achromians, Berardinelli-Seip syndrome, and Sturge-Weber syndrome. Treatment is only required if the ...
Genetic disorder
Some X-linked dominant conditions, such as Rett syndrome, incontinentia pigmenti type 2, and Aicardi syndrome, are usually ... although in cases such as incontinentia pigmenti, only female offspring are generally viable. X-linked recessive conditions are ...
List of skin conditions
Incontinentia pigmenti achromians (hypomelanosis of Ito) Immune dysfunction-polyendocrinopathy-enteropathy-X-linked syndrome ... Granuloma faciale Hypereosinophilia Hypereosinophilic syndrome Incontinentia pigmenti (Bloch-Siemens syndrome, Bloch-Sulzberger ...
Sex linkage
Alport syndrome Coffin-Lowry syndrome (CLS) Fragile X syndrome Idiopathic hypoparathyroidism Incontinentia pigmenti Rett ...
Hypohidrosis
Tumors Burns Radiation Surgery Scars Sores Dermatological X-linked hypohidrotic ectodermal dysplasia Incontinentia pigmenti ...