scholarly journals Rapp-Hodgkin Syndrome with palmoplantar keratoderma

2022 ◽  
Author(s):  
wissal abdelli ◽  
Asmahene Souissi ◽  
Wiem Sassi ◽  
Fatima Alaoui ◽  
Mourad Mokni
Keyword(s):  
Ectodermal Dysplasia ◽  
Rare Condition ◽  
Palmoplantar Keratoderma

Rapp-Hodgkin syndrome is a rare condition that is characterized by ectodermal dysplasia and palatal abnormalities. We describe a 15-year-old male who has Rapp-Hodgkin syndrome that is associated with a palmoplantar keratoderma.

Hypohidrotic ectodermal dysplasia associated with squamous cell carcinoma of the trachea

2002 ◽  
Vol 116 (9) ◽  
pp. 742-743 ◽  
Author(s):  
S. C. A. Winter ◽  
G. J. Bates
Keyword(s):  
Squamous Cell Carcinoma ◽  
Respiratory Tract ◽  
Cell Carcinoma ◽  
Nasal Obstruction ◽  
Squamous Cell ◽  
Ectodermal Dysplasia ◽  
Rare Condition ◽  
Upper Respiratory Tract ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Upper Respiratory

Hypohidrotic ectodermal dysplasia (HED) is a rare condition characterized by abnormalities to ectodermal derived tissues although other organs or systems are frequently involved. Patients with HED can have a number of symptoms that may lead them to present to the otolaryngologist. We present a case of a 37-year-old female with HED who initially presented with nasal obstruction but then very rapidly developed stridor due to a tracheal squamous cell carcinoma. We suggest a possible association between HED and carcinoma of the upper respiratory tract that has not previously been reported.

scholarly journals Hypohidrotic ectodermal dysplasia - a case report / Hipohidrotska ektodermalna displazija – prikaz slučaja

2011 ◽  
Vol 3 (3) ◽  
pp. 109-112
Author(s):  
Svetlana Popadić ◽  
Andreja Vujanac ◽  
Biljana Arsov ◽  
Petar Ivanovski ◽  
Miloš Nikolić
Keyword(s):  
Case Report ◽  
Growth And Development ◽  
Ectodermal Dysplasia ◽  
Abnormal Development ◽  
Sweat Glands ◽  
Facial Features ◽  
Palmoplantar Keratoderma ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Ectodermal Dysplasias ◽  
Sparse Hair

Abstract Ectodermal dysplasias are a large group of disorders characterized by developmental dystrophies of one or more ectodermal structures. Hypohidrotic ectodermal dysplasia is a rare genodermatosis associated with abnormal development of sweat glands, teeth, and hair. Its incidence is 1:100.000 newborns. The full expression of X-recessive forms are only seen in males, while female heterozygotes are moderately or very slightly affected. The disease is characterized by sparse hair, oligodontia, and reduced or absent sweeting, light hair, distinctive facial features, palmoplantar keratoderma. We report an 11-year-old boy with hypohidrotic ectodermal dysplasia. Despite extensive skin, teeth and hair manifestations, his physical and psychomotor growth and development were normal.

scholarly journals Sporadic Progressive Symmetric Erythrokeratoderma: Classical Presentation of a rare Condition

2019 ◽  
Vol 17 (1) ◽  
pp. 69-72
Author(s):  
Kompal Agarwal ◽  
Sudha Agrawal ◽  
Anju Pradhan
Keyword(s):  
Early Childhood ◽  
Rare Disease ◽  
Autosomal Dominant ◽  
Rare Condition ◽  
Palmoplantar Keratoderma ◽  
The Family ◽  
The Face ◽  
History Of ◽  
Erythematous Plaques ◽  
Systemic Abnormality

Progressive symmetrical erythrokeratodermia (PSEK) is a rare autosomal dominant genodermatosis presenting in infancy or early childhood. An 11-year-old male presented with a history of pruritic, erythematous, scaly, hyperkeratotic plaques first noted at 5 years of age, with no history of similar lesions in the family. Cutaneous examination revealed multiple, irregularly shaped, erythematous plaques with fine, shiny white, adherent scaling distributed symmetrically over the face, trunk, inguinal area, bilateral axillae and extensor surfaces of limbs. Palmoplantar keratoderma was present with thickened, yellowish discolored nails. No systemic abnormality was found. The histopathological findings were consistent with PSEK. The case is being reported to increase the awareness about this rare disease.

Anhidrotic ectodermal dysplasia; a surgical problem

JAMA ◽  
1966 ◽  
Vol 195 (6) ◽  
pp. 494-495 ◽  
Author(s):  
R. E. Rossman
Keyword(s):  
Ectodermal Dysplasia ◽  
Anhidrotic Ectodermal Dysplasia

Ultrastructural Features of Normal and Diseased Hair Revealed by Ion Beam Etching and Freeze Fracture

1975 ◽  
Vol 33 ◽  
pp. 358-359
Author(s):  
M. Spector ◽  
A. C. Brown
Keyword(s):  
Electron Microscopy ◽  
Scanning Electron Microscopy ◽  
Ectodermal Dysplasia ◽  
Ion Beam ◽  
Freeze Fracture ◽  
Ion Current ◽  
Ion Beam Etching ◽  
Pili Torti ◽  
Argon Ion ◽  
Scanning Electron

Ion beam etching and freeze fracture techniques were utilized in conjunction with scanning electron microscopy to study the ultrastructure of normal and diseased human hair. Topographical differences in the cuticular scale of normal and diseased hair were demonstrated in previous scanning electron microscope studies. In the present study, ion beam etching and freeze fracture techniques were utilized to reveal subsurface ultrastructural features of the cuticle and cortex.Samples of normal and diseased hair including monilethrix, pili torti, pili annulati, and hidrotic ectodermal dysplasia were cut from areas near the base of the hair. In preparation for ion beam etching, untreated hairs were mounted on conducting tape on a conducting silicon substrate. The hairs were ion beam etched by an 18 ky argon ion beam (5μA ion current) from an ETEC ion beam etching device. The ion beam was oriented perpendicular to the substrate. The specimen remained stationary in the beam for exposures of 6 to 8 minutes.

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