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Boletin. Sociedad Cubana de... Jun 1947
Topics: Atrophy; Connective Tissue Diseases; Rothmund-Thomson Syndrome; Skin Diseases
PubMed: 20257256
DOI: No ID Found -
Proceedings of the Royal Society of... Jul 1947
Topics: Atrophy; Connective Tissue Diseases; Humans; Rothmund-Thomson Syndrome; Skin Diseases
PubMed: 19993601
DOI: No ID Found -
Indian Journal of Dermatology 2021
PubMed: 34759414
DOI: 10.4103/ijd.IJD_764_19 -
Proceedings of the Royal Society of... Jun 1946
PubMed: 19993329
DOI: No ID Found -
British Journal of Haematology Feb 2024The clinical problem of a non-healing fistula in ano in a child affected with poikiloderma with neutropenia (PN) was the stimulus for an innovative study by Parajuli...
The clinical problem of a non-healing fistula in ano in a child affected with poikiloderma with neutropenia (PN) was the stimulus for an innovative study by Parajuli et al. that sheds light on the pathological mechanisms in this disease. Multiparametric analyses of the patient's blood mononuclear cells by cell culture, flow cytometry and multiplex cytokine assay suggested a block of monocyte differentiation. Monocyte transcriptome profiling revealed a signature consistent with the haematological picture and the clinical presentation. Commentary on: Parajuli et al. Defective monocyte plasticity and altered cAMP pathway characterize USB1-mutated poikiloderma with neutropenia Clericuzio type. Br J Haematol 2024;204:683-693.
Topics: Child; Humans; Skin Abnormalities; Neutropenia; Monocytes; Mutation; Phosphoric Diester Hydrolases
PubMed: 37932156
DOI: 10.1111/bjh.19184 -
Journal of the European Academy of... Jan 1999Congenital poikiloderma is an uncommon hereditary disorder. It has been reported in association with various syndrome. No case has previously been reported from this... (Review)
Review
Congenital poikiloderma is an uncommon hereditary disorder. It has been reported in association with various syndrome. No case has previously been reported from this environment. We report a case of congenital poikiloderma in a two and a half year old female Nigerian associated with unusual generalised hypopigmentation and acral blisters at birth. The child subsequently developed macular hyperpigmentation on an erythematous background and atrophy of the skin. Although she had some features which were suggestive of Rothmund-Thomson syndrome (RTS), the presence of hypopigmentation at birth, along with acral blistering, was noted to be peculiar to this child. We, therefore, feel that this case presents a distinct variant of congenital poikiloderma that has not been described previously.
Topics: Blister; Child, Preschool; Extremities; Female; Humans; Hypopigmentation; Intellectual Disability; Rothmund-Thomson Syndrome
PubMed: 10188152
DOI: No ID Found -
Clinical Case Reports Oct 2021There are various causes of childhood poikiloderma. A proper history and clinical examination may help to get conclusion and narrow down the differentials for the causes...
There are various causes of childhood poikiloderma. A proper history and clinical examination may help to get conclusion and narrow down the differentials for the causes of poikiloderma.
PubMed: 34703608
DOI: 10.1002/ccr3.4977 -
Journal of Clinical Immunology May 2017Poikiloderma with Neutropenia (PN) is inherited genodermatosis which results from a biallelic mutation in the USB1 gene (U Six Biogenesis 1). PN, first described in...
PURPOSE
Poikiloderma with Neutropenia (PN) is inherited genodermatosis which results from a biallelic mutation in the USB1 gene (U Six Biogenesis 1). PN, first described in Navajo Native Americans, is characterized by early onset poikiloderma, pachyonychia, palmo-plantar hyperkeratosis, and permanent neutropenia. This condition results in frequent respiratory tract infections during infancy and childhood. From 2011 to 2013, four cases of PN were diagnosed in Morocco. In this paper, we report the first four cases of PN diagnosed in Morocco, out of three unrelated consanguinous families.
METHODS
We investigated the genetic, immunological, and clinical features of four Moroccan patients with PN from three unrelated consanguinous families.
RESULTS
Mean age at onset was 3 months and mean age at diagnosis was 7.5 years. The diagnosis of these PN patients was made based on clinical features and confirmed by molecular analysis for three cases. We identified two undescribed homozygous mutations in the USB1 gene: c.609 + 1G>A in two siblings and c.518 T>G(p.(Leu173Arg)) in the other case.
CONCLUSION
This report confirms the clinical and genetic identity of Poikiloderma with Neutropenia syndrome.
Topics: Adolescent; Child; Child, Preschool; Consanguinity; DNA Mutational Analysis; Female; Homozygote; Humans; Infant; Infections; Male; Morocco; Mutation; Neutropenia; Pathology, Molecular; Pedigree; Phosphoric Diester Hydrolases; Siblings; Skin Abnormalities
PubMed: 28353165
DOI: 10.1007/s10875-017-0385-7 -
Indian Dermatology Online Journal 2015Huriez syndrome is a rare autosomal dominant genodermatosis characterized by the triad of congenital scleroatrophy of the distal extremities, palmoplantar keratoderma...
Huriez syndrome is a rare autosomal dominant genodermatosis characterized by the triad of congenital scleroatrophy of the distal extremities, palmoplantar keratoderma (PPK) and hypoplastic nails. We report the case of a 25 year old male, with nonfamilial Huriez syndrome.
PubMed: 25657913
DOI: 10.4103/2229-5178.148929 -
International Journal of Dermatology May 1978Three persons with hereditary sclerosing poikiloderma were studied to find any clue to explain the mechanism involved in producing the cutaneous lesions which are so...
Three persons with hereditary sclerosing poikiloderma were studied to find any clue to explain the mechanism involved in producing the cutaneous lesions which are so striking clinically and also evident histologically. Investigational studies included a blood chemistry screen, chromosome analyses, and skin biopsies evaluated by routine stains as well as by electron microscopy and direct immunofluorescence. No mechanism for the production of the clinical and histological changes in the dominantly inherited disorder was found.
Topics: Adolescent; Child; Diagnosis, Differential; Humans; Male; Rothmund-Thomson Syndrome; Skin; Skin Diseases
PubMed: 659034
DOI: 10.1111/j.1365-4362.1978.tb06085.x