Rothmund-Thomson Syndrome [Rothmundův-Thomsonův syndrom]

topical
7
Terms

dystrophia cutanea congenitalis
poikiloderma congenitale
poikilodermia atrophicans familiaris

 

Congenital Poikiloderma
Poikiloderma Atrophicans and Cataract
Poikiloderma Congenitale
Poikiloderma Congenitale of Rothmund-Thomson
Poikiloderma of Rothmund-Thomson

Persistent link   https://www.medvik.cz/link/D011038
Definition

An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of HAIR; NAILS; and TEETH; and HYPOGONADISM.

DUI
D011038 MeSH Browser
CUI
M0017095
History note
2006 (1964)
Public note
2006; see POIKILODERMA CONGENITALE 1991-2005, see SKIN DISEASES 1964-1990

Allowable subheadings

BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications
DI
diagnosis 3
DG
diagnostic imaging
DH
diet therapy
DT
drug therapy
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology
EH
ethnology
ET
etiology 4
GE
genetics 1
HI
history
IM
immunology
ME
metabolism
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology
PP
physiopathology 1
PC
prevention & control 1
PX
psychology
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy 2
UR
urine
VE
veterinary
VI
virology

C Diseases
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.131 Congenital Abnormalities 1 741
C16.131.831 Skin Abnormalities 51
C16.131.831.066 Acrodermatitis 66
C16.131.831.108 Carney Complex 8
C16.131.831.150 Dyskeratosis Congenita 9
C16.131.831.350 Ectodermal Dysplasia 33
C16.131.831.428 Ehlers-Danlos Syndrome 51
C16.131.831.493 Epidermolysis Bullosa 108
C16.131.831.512 Ichthyosis 62
C16.131.831.580 Incontinentia Pigmenti 19
C16.131.831.675 Port-Wine Stain 5
C16.131.831.720 Prolidase Deficiency
C16.131.831.766 Pseudoxanthoma Elasticum 13
C16.131.831.775 Rothmund-Thomson Syndrome 7
C16.131.831.812 Sclerema Neonatorum 2
C16.131.831.874 Trichothiodystrophy Syndromes 1
C16.131.831.936 Xeroderma Pigmentosum 25
C16.320 Genetic Diseases, Inborn 1 213
C16.320.850 Skin Diseases, Genetic 89
C16.320.850.080 Albinism 17
C16.320.850.180 Cutis Laxa 10
C16.320.850.190 Darier Disease 26
C16.320.850.210 Dermatitis, Atopic 1 445
C16.320.850.235 Dyskeratosis Congenita 9
C16.320.850.250 Ectodermal Dysplasia 33
C16.320.850.260 Ehlers-Danlos Syndrome 51
C16.320.850.275 Epidermolysis Bullosa 108
C16.320.850.337 Erythrokeratodermia Variabilis 1
C16.320.850.368 Hyaline Fibromatosis Syndrome 1
C16.320.850.400 Ichthyosiform Erythroderma, Congenital 8
C16.320.850.402 Ichthyosis Bullosa of Siemens 3
C16.320.850.405 Ichthyosis Vulgaris 5
C16.320.850.408 Ichthyosis, X-Linked 9
C16.320.850.420 Incontinentia Pigmenti 19
C16.320.850.475 Keratoderma, Palmoplantar 15
C16.320.850.542 Leukokeratosis, Hereditary Mucosal 1
C16.320.850.595 Lipoid Proteinosis of Urbach and Wiethe 5
C16.320.850.647 Monilethrix 1
C16.320.850.673 Netherton Syndrome 2
C16.320.850.700 Pemphigus, Benign Familial 11
C16.320.850.730 Porokeratosis 11
C16.320.850.738 Porphyria, Erythropoietic 11
C16.320.850.742 Porphyrias, Hepatic 26
C16.320.850.746 Prolidase Deficiency
C16.320.850.750 Pseudoxanthoma Elasticum 13
C16.320.850.765 Rothmund-Thomson Syndrome 7
C16.320.850.820 Sjogren-Larsson Syndrome 4
C16.320.850.895 Trichothiodystrophy Syndromes 1
C16.320.850.970 Xeroderma Pigmentosum 25
C16.614 Infant, Newborn, Diseases 1 946
C16.614.042 Amniotic Band Syndrome 6
C16.614.053 Anemia, Neonatal 22
C16.614.092 Asphyxia Neonatorum 172
C16.614.131 Birth Injuries 158
C16.614.166 Colic 125
C16.614.183 Congenital Bone Marrow Failure Syndromes 2
C16.614.200 Congenital Hyperinsulinism 24
C16.614.213 Cystic Fibrosis 1 328
C16.614.258 Epilepsy, Benign Neonatal 13
C16.614.304 Erythroblastosis, Fetal 140
C16.614.378 Hernia, Umbilical 45
C16.614.438 Hydrophthalmos 9
C16.614.451 Hyperbilirubinemia, Neonatal 65
C16.614.465 Hyperostosis, Cortical, Congenital 13
C16.614.492 Ichthyosis 62
C16.614.521 Infant, Premature, Diseases 317
C16.614.580 Meconium Aspiration Syndrome 35
C16.614.595 Mobius Syndrome 10
C16.614.610 Neonatal Abstinence Syndrome 74
C16.614.627 Neonatal Sepsis 35
C16.614.643 Nystagmus, Congenital 8
C16.614.660 OEIS Complex
C16.614.677 Ophthalmia Neonatorum 12
C16.614.694 Persistent Fetal Circulation Syndrome 17
C16.614.760 Rothmund-Thomson Syndrome 7
C16.614.810 Sclerema Neonatorum 2
C16.614.815 Severe Combined Immunodeficiency 63
C16.614.868 Syphilis, Congenital 87
C16.614.890 Thanatophoric Dysplasia 7
C16.614.899 Thrombocytopenia, Neonatal Alloimmune 14
C16.614.909 Toxoplasmosis, Congenital 75
C16.614.940 Vitamin K Deficiency Bleeding 22
C16.614.947 Wolman Disease 15
C17 Skin and Connective Tissue Diseases 32
C17.800 Skin Diseases 2 799
C17.800.804 Skin Abnormalities 51
C17.800.804.066 Acrodermatitis 66
C17.800.804.108 Anetoderma 5
C17.800.804.150 Dyskeratosis Congenita 9
C17.800.804.350 Ectodermal Dysplasia 33
C17.800.804.428 Ehlers-Danlos Syndrome 51
C17.800.804.493 Epidermolysis Bullosa 108
C17.800.804.512 Ichthyosis 62
C17.800.804.580 Incontinentia Pigmenti 19
C17.800.804.675 Port-Wine Stain 5
C17.800.804.766 Pseudoxanthoma Elasticum 13
C17.800.804.775 Rothmund-Thomson Syndrome 7
C17.800.804.812 Sclerema Neonatorum 2
C17.800.804.874 Trichothiodystrophy Syndromes 1
C17.800.804.936 Xeroderma Pigmentosum 25
C17.800.827 Skin Diseases, Genetic 89
C17.800.827.080 Albinism 17
C17.800.827.180 Cutis Laxa 10
C17.800.827.190 Darier Disease 26
C17.800.827.210 Dermatitis, Atopic 1 445
C17.800.827.235 Dyskeratosis Congenita 9
C17.800.827.250 Ectodermal Dysplasia 33
C17.800.827.260 Ehlers-Danlos Syndrome 51
C17.800.827.275 Epidermolysis Bullosa 108
C17.800.827.337 Erythrokeratodermia Variabilis 1
C17.800.827.368 Hereditary Autoinflammatory Diseases 46
C17.800.827.384 Hyaline Fibromatosis Syndrome 1
C17.800.827.400 Ichthyosiform Erythroderma, Congenital 8
C17.800.827.403 Ichthyosis Bullosa of Siemens 3
C17.800.827.405 Ichthyosis Vulgaris 5
C17.800.827.408 Ichthyosis, X-Linked 9
C17.800.827.420 Incontinentia Pigmenti 19
C17.800.827.475 Keratoderma, Palmoplantar 15
C17.800.827.595 Leukokeratosis, Hereditary Mucosal 1
C17.800.827.602 Monilethrix 1
C17.800.827.610 Muir-Torre Syndrome 10
C17.800.827.655 Netherton Syndrome 2
C17.800.827.700 Pemphigus, Benign Familial 11
C17.800.827.730 Porokeratosis 11
C17.800.827.738 Porphyria, Erythropoietic 11
C17.800.827.742 Porphyrias, Hepatic 26
C17.800.827.750 Pseudoxanthoma Elasticum 13
C17.800.827.775 Rothmund-Thomson Syndrome 7
C17.800.827.820 Sjogren-Larsson Syndrome 4
C17.800.827.895 Trichothiodystrophy Syndromes 1
C17.800.827.970 Xeroderma Pigmentosum 25
C18 Nutritional and Metabolic Diseases 172
C18.452 Metabolic Diseases 1 196
C18.452.284 DNA Repair-Deficiency Disorders 10
C18.452.284.060 Ataxia Telangiectasia 47
C18.452.284.100 Bloom Syndrome 11
C18.452.284.250 Cockayne Syndrome 4
C18.452.284.255 Colorectal Neoplasms, Hereditary Nonpolyposis 114
C18.452.284.280 Fanconi Anemia 46
C18.452.284.520 Li-Fraumeni Syndrome 39
C18.452.284.600 Nijmegen Breakage Syndrome 21
C18.452.284.760 Rothmund-Thomson Syndrome 7
C18.452.284.800 Severe Combined Immunodeficiency 63
C18.452.284.960 Werner Syndrome 14
C18.452.284.975 Xeroderma Pigmentosum 25

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