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Howel-Evans syndrome(TOC)

MedGen UID:
324338
Concept ID:
C1835664
Neoplastic Process
Synonyms: KERATOSIS PALMARIS ET PLANTARIS WITH ESOPHAGEAL CANCER; Keratosis palmoplantaris with esophageal cancer; PALMOPLANTAR KERATODERMA WITH ESOPHAGEAL CANCER; TOC; Tylosis with esophageal cancer
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: HPO
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
 
Gene (location): RHBDF2 (17q25.1)
OMIM®: 148500
Orphanet: ORPHA2198

Definition

Palmoplantar keratoderma (PPK) is a complex group of hereditary syndromes that have been classified into diffuse, punctate, and focal forms according to the pattern of hyperkeratosis on the palms and soles (Lucker et al., 1994). For a discussion of phenotypic and genetic heterogeneity of palmoplantar keratoderma, see epidermolytic PPK (144200). [from OMIM]

Clinical features

Weight loss
MedGen UID:
504965
Concept ID:
CN001653
Finding
Reduction inexisting body weight.
Esophageal neoplasm
MedGen UID:
451997
Concept ID:
CN117641
Finding
A tumor (abnormal growth of tissue) of the esophagus.
Esophageal carcinoma
MedGen UID:
506575
Concept ID:
CN167187
Finding
The presence of a carcinoma of the esophagus.
Abnormality of the mouth
MedGen UID:
424981
Concept ID:
CN000149
Finding
An abnormality of the mouth.
Clubbing of toes
MedGen UID:
452000
Concept ID:
CN117650
Finding
Terminal broadening of the toes (distal phalanges of the toes).
Ascites
MedGen UID:
416
Concept ID:
C0003962
Finding
A disorder characterized by accumulation of serous or hemorrhagic fluid in the peritoneal cavity.
Feeding difficulties in infancy
MedGen UID:
436211
Concept ID:
C2674608
Finding
Nausea and vomiting
MedGen UID:
505054
Concept ID:
CN001825
Finding
Gastrointestinal hemorrhage
MedGen UID:
505164
Concept ID:
CN002030
Finding
Hemorrhage affecting the gastrointestinal tract.
Hepatomegaly
MedGen UID:
505165
Concept ID:
CN002031
Finding
Abnormally increased size of the liver.
Abnormality of the intestine
MedGen UID:
427914
Concept ID:
CN002033
Finding
An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine.
Esophageal neoplasm
MedGen UID:
451997
Concept ID:
CN117641
Finding
A tumor (abnormal growth of tissue) of the esophagus.
Esophageal carcinoma
MedGen UID:
506575
Concept ID:
CN167187
Finding
The presence of a carcinoma of the esophagus.
Palmoplantar keratoderma
MedGen UID:
400147
Concept ID:
C1862859
Finding
Parakeratosis
MedGen UID:
504694
Concept ID:
CN000971
Finding
Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes.
Diffuse palmoplantar hyperkeratosis
MedGen UID:
425903
Concept ID:
CN006526
Finding
Gastrointestinal hemorrhage
MedGen UID:
505164
Concept ID:
CN002030
Finding
Hemorrhage affecting the gastrointestinal tract.
Gastrointestinal hemorrhage
MedGen UID:
505164
Concept ID:
CN002030
Finding
Hemorrhage affecting the gastrointestinal tract.
Vocal cord paresis
MedGen UID:
334346
Concept ID:
C1843187
Finding
Diffuse palmoplantar hyperkeratosis
MedGen UID:
425903
Concept ID:
CN006526
Finding
Clubbing of toes
MedGen UID:
452000
Concept ID:
CN117650
Finding
Terminal broadening of the toes (distal phalanges of the toes).
Abnormality of the mediastinum
MedGen UID:
830564
Concept ID:
CN224637
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHowel-Evans syndrome
Follow this link to review classifications for Howel-Evans syndrome in Orphanet.

Recent clinical studies

Diagnosis

Grundmann JU, Weisshaar E, Franke I, Bonnekoh B, Gollnick H
Int J Dermatol 2003 Jun;42(6):461-3. PMID: 12786874

Therapy

Grundmann JU, Weisshaar E, Franke I, Bonnekoh B, Gollnick H
Int J Dermatol 2003 Jun;42(6):461-3. PMID: 12786874

Prognosis

Grundmann JU, Weisshaar E, Franke I, Bonnekoh B, Gollnick H
Int J Dermatol 2003 Jun;42(6):461-3. PMID: 12786874

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