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Proceedings of the Royal Society of... Jun 1947
Topics: Connective Tissue Diseases; Humans; Rothmund-Thomson Syndrome; Skin Diseases; Skin Neoplasms
PubMed: 19993586
DOI: No ID Found -
Archives of Dermatology Apr 1990
Topics: Chronic Disease; Erythema; Female; Humans; Lasers; Middle Aged; Neck; Pigmentation Disorders
PubMed: 2322008
DOI: No ID Found -
The British Journal of Dermatology Jan 2019
Topics: Humans; Leukocyte Count; Male; Mutation; Neutropenia; Neutrophils; Phosphoric Diester Hydrolases; Skin Abnormalities; Young Adult
PubMed: 30604532
DOI: 10.1111/bjd.17206 -
Proceedings of the Royal Society of... Dec 1932
PubMed: 19989031
DOI: No ID Found -
Proceedings of the Royal Society of... Jan 1944
PubMed: 19992762
DOI: No ID Found -
Cutis May 1976A 46-year-old Negro man with poikiloderma vasculare atrophicans is described. The disease progressed graduall.y for 22 years, with lesions appearing over the neck, trunk...
A 46-year-old Negro man with poikiloderma vasculare atrophicans is described. The disease progressed graduall.y for 22 years, with lesions appearing over the neck, trunk and extremities in an asymmetrical distribution, but it did not become lymphoma or collagen disease. Treatment did not appear to influence the course of the disease.
Topics: Adult; Diagnosis, Differential; Follow-Up Studies; Humans; Male; Middle Aged; Skin; Skin Diseases
PubMed: 1017268
DOI: No ID Found -
Pediatric Dermatology Jun 1989Kindler's syndrome occurred in a 13-year-old boy with parental consanguinity. The patient had acral congenital blistering and photosensitivity, both regressive, at 12... (Review)
Review
Kindler's syndrome occurred in a 13-year-old boy with parental consanguinity. The patient had acral congenital blistering and photosensitivity, both regressive, at 12 years of age, together with diffuse progressive poikiloderma, marked cutaneous atrophy, mild hyperkeratosis of the palms, gingival hypertrophy and fragility, and anal stenosis. The ultrastructural study of bullae induced by rubbing showed clefts in three levels of the dermoepidermal junction zone. A review of 14 cases in the literature consistent with Kindler's syndrome showed this to be a definite clinical entity among the other bullous hereditary poikilodermas. In two cases, ultrastructural studies showed intraepidermal, junctional, and dermal cleavage. This syndrome must be differentiated from congenital epidermolysis bullosa, Weary's syndrome, and the other bullous hereditary poikilodermas.
Topics: Adolescent; Age Factors; Biopsy; Blister; Consanguinity; Diagnosis, Differential; Humans; Male; Microscopy, Electron; Photosensitivity Disorders; Rothmund-Thomson Syndrome; Skin; Skin Diseases
PubMed: 2664739
DOI: 10.1111/j.1525-1470.1989.tb01003.x -
Ryoikibetsu Shokogun Shirizu 2001
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Pediatric Dermatology Jul 2022Two siblings presented with sun sensitivity and progressive dyspigmentation. A diagnosis of xeroderma pigmentosum was initially favored due to XPC mutations, although...
Two siblings presented with sun sensitivity and progressive dyspigmentation. A diagnosis of xeroderma pigmentosum was initially favored due to XPC mutations, although variants were not clearly diagnostic. However, new moderate neutropenia and homozygous suspected pathogenic variants in USB1 led to diagnosis of poikiloderma with neutropenia. This case highlights the importance of reevaluation of diagnosis due to significant phenotypic overlap in congenital disorders of photosensitivity with poikiloderma or dyspigmentation.
Topics: Connective Tissue Diseases; Homozygote; Humans; Mutation; Neutropenia; Phosphoric Diester Hydrolases; Skin Abnormalities
PubMed: 35522049
DOI: 10.1111/pde.15007 -
American Journal of Medical Genetics.... Jan 2021A 9-year-old boy presented for evaluation of variegated skin pigmentation. Palms and soles revealed honeycombed hyperpigmented hyperkeratosis. Irregular, firm, skin...
A 9-year-old boy presented for evaluation of variegated skin pigmentation. Palms and soles revealed honeycombed hyperpigmented hyperkeratosis. Irregular, firm, skin coloured nodules suggestive of cutaneous calcification were present on both elbows. Total leucocyte count and absolute neutrophil count were 3720/mm3 and 420/mm3 respectively. The neutropenia was not cyclical. Systematic analysis of the whole exome data revealed a homozygous mutation in USB1 gene; chr16:g.58043892TA>-[1/1]. A final diagnosis of poikiloderma with neutropenia- Clericuzio type (PNC) was made. Naegeli Franceschetti Jadassohn, dermatopathia pigmentosa reticularis, PNC and dyskeratosis congenita, all can present with overlapping cutaneous manifestations. Subtle clinical details like thickened nails, hyperextensible joints, calcinosis cutis, characteristic facies and a preceding erythematopapular rash strongly favor the diagnosis of PNC. The index case highlights two novel findings: obliterated dermatoglyphics and mucin deposition (features not described hitherto in PNC).
Topics: Adolescent; Diagnosis, Differential; Dyskeratosis Congenita; Humans; Hyperpigmentation; Male; Mucins; Mutation; Neutropenia; Pedigree; Phosphoric Diester Hydrolases; Skin Abnormalities; Skin Pigmentation
PubMed: 33111394
DOI: 10.1002/ajmg.a.61943