-
Actas Dermo-sifiliograficas Apr 1946
Topics: Humans; Rothmund-Thomson Syndrome
PubMed: 20989559
DOI: No ID Found -
Dermatology Online Journal Jan 2016Poikiloderma-like cutaneous amyloidosis (PCA) is a rare variant of primary cutaneous amyloidosis. It was first described in 1929 and there are two clinical forms of PCA,...
Poikiloderma-like cutaneous amyloidosis (PCA) is a rare variant of primary cutaneous amyloidosis. It was first described in 1929 and there are two clinical forms of PCA, the ordinary type and PCA syndrome. The characteristics of PCA include poikiloderma-like skin changes, lichenoid papules, blister formation, and cutaneous amyloid deposits on histological examination. These skin lesions usually occur at the extremities, consistent with the few cases that have been reported. We present a case of a 62-year-old man who presented with the features of poikiloderma-like cutaneous amyloidosis. Diagnosis of this unique condition is a challenge and a skin biopsy is necessary in such instances. A discussion of the differential diagnosis of this condition is also included.
Topics: Amyloidosis, Familial; Biopsy; Diagnosis, Differential; Humans; Male; Middle Aged; Skin; Skin Diseases, Genetic
PubMed: 26990468
DOI: No ID Found -
American Journal of Medical Genetics.... Jul 2021Poikiloderma with neutropenia (PN), is a rare autosomal recessive condition with many associated complications and manifestations. Here we present a patient with...
Poikiloderma with neutropenia (PN), is a rare autosomal recessive condition with many associated complications and manifestations. Here we present a patient with confirmed PN who is of one-quarter Chucktaw or Cherokee heritage with no known descent from the Navajo tribe. The patient's condition was complicated by chronic bilateral lower limb cellulitis and associated osteomyelitis which was unresponsive to extensive antibiotic regimens. Subsequent treatment with hyperbaric oxygen therapy (HBOT) was successful. To date, no author has reported on the treatment of recurrent cellulitis using HBOT in this patient population. Based on our experience, HBOT should be considered in patients with PN.
Topics: Adult; Cellulitis; Female; Humans; Hyperbaric Oxygenation; Neutropenia; Osteomyelitis; Skin Abnormalities; Young Adult
PubMed: 33836117
DOI: 10.1002/ajmg.a.62204 -
Pediatric Dermatology Nov 2018Here, we describe a case of a patient with known poikiloderma with neutropenia who developed cutaneous squamous cell carcinoma in a chronically sun-exposed area at the...
Here, we describe a case of a patient with known poikiloderma with neutropenia who developed cutaneous squamous cell carcinoma in a chronically sun-exposed area at the age of 14. To date, there is only one other report of this association. This report highlights the need for routine skin cancer screening in patients with this diagnosis as well as the importance of a correct initial diagnosis.
Topics: Adolescent; Carcinoma, Squamous Cell; Female; Humans; Neutropenia; Skin Abnormalities; Skin Neoplasms
PubMed: 30152552
DOI: 10.1111/pde.13645 -
Ryoikibetsu Shokogun Shirizu 2001
Review
Topics: Child, Preschool; Humans; Infant; Rothmund-Thomson Syndrome
PubMed: 11528866
DOI: No ID Found -
Proceedings of the Royal Society of... Jun 1954
Topics: Carcinoma; Carcinoma, Squamous Cell; Connective Tissue Diseases; Humans; Parapsoriasis; Skin Diseases
PubMed: 13177539
DOI: No ID Found -
A.M.A. Archives of Dermatology and... Dec 1950
Topics: Atrophy; Connective Tissue Diseases; Rothmund-Thomson Syndrome; Skin Diseases
PubMed: 14782715
DOI: No ID Found -
A.M.A. Archives of Dermatology and... Dec 1950
Topics: Atrophy; Parapsoriasis; Rothmund-Thomson Syndrome; Skin Diseases
PubMed: 14782708
DOI: No ID Found -
The British Journal of Dermatology Jan 1955
Topics: Atrophy; Connective Tissue Diseases; Humans; Skin Diseases
PubMed: 13230402
DOI: No ID Found -
Indian Journal of Dermatology Jul 1964
Topics: Adolescent; Atrophy; Connective Tissue Diseases; Pathology; Skin Diseases
PubMed: 14195502
DOI: No ID Found