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253 Possible Causes for Poikiloderma, Sparse Eyelashes

  • Rothmund Thomson Syndrome

    Two sisters with congenital poikiloderma (Rothmund-Thomson syndrome) are described.[ncbi.nlm.nih.gov] The authors describe two siblings with RTS and inflammatory conjunctival disease featuring fornix shortening and symblepharon as well as palpebral disease with sparse eyelashes[ncbi.nlm.nih.gov] […] and thin eyebrow Thin, sparse eyebrows 0000535 Sparse eyelashes Scant eyelashes Scanty eyelashes Thin eyelashes [ more ] 0000653 5%-29% of people have these symptoms Abnormal[rarediseases.info.nih.gov]

  • Dyskeratosis Congenita

    -10 code(s) when ordering the Dyskeratosis Congenita Panel ICD-10 Disease Q82.8 Hoyeraal Hreidarsson syndrome D81.0 Reticular dysgenesis H35.00 Coats plus syndrome D82.8 Poikiloderma[blueprintgenetics.com] eyelashes 16.1 Hyperhiderosis 15.3 Malignancy 9.8 Intrauterine growth retardation 7.6 Liver disease/peptic ulceration/enteropathy 7.3 Ataxia/cerebellar hypoplasia 6.8 Hypogonadism[europeanmedical.info] Keratinization of the lid margins, absent lacrimal puncta, trichiasis, cicatrizing conjunctivitis, entropion, ectropion, blepharitis, sparse eyelashes, and symblephara are[disorders.eyes.arizona.edu]

  • Oculo-Osteo-Cutaneous Syndrome

    180730 Rosselli-Gulienetti syndrome Ectodermal dysplasia, cleft lip and palate, hand and foot deformity and mental retardation syndrome 225000 Rothmund-Thomson syndrome Poikiloderma[keratin.com] eyelashes 32 HP:0000653 10 anodontia 32 HP:0000674 11 hypotrichosis 32 HP:0001006 12 short toe 32 HP:0001831 13 fine hair 32 HP:0002213 14 absent axillary hair 32 HP:0002221[malacards.org] Palmoplantar Keratoderma and Congenital Alopecia, Autosomal Dominant Papillon-Lefevre Syndrome Pili Torti and Developmental Delay Pilodental Dysplasia with Refractive Errors Poikiloderma[nfed.org]

  • RAPADILINO Syndrome

    Mutations of the RECQL4 gene have also been described for these syndromes.The presence of poikiloderma, a major symptom of RTS, distinguishes this syndrome from RAPADILINO[orpha.net] […] hair, eyelashes and/or eyebrows gastrointestinal problems in infancy People with Rothmund-Thomson syndrome have a predisposition to cancer, particularly skin cancer and a[pfond.cmmt.ubc.ca] While many features of the 2 genetic disorders overlap, poikiloderma—a hallmark of RTS—has been described as generally absent in RAPADILINO syndrome.[jamanetwork.com]

  • Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome

    Group of diseases Estimated prevalence/incidence (/100,000) Number of published cases or families 90066 Pneumonia caused by Pseudomonas aeruginosa infection 50.0 P * 221046 Poikiloderma[azkurs.org] […] absent eyelashes and eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint contractures and an early neonatal lethal[ab-y-ss.com] Pro-Opiomelanocortin Deficiency Oculocerebrorenal Syndrome Of Lowe Panhypopituitarism Paternal Uniparental Disomy Of Chromosome 1 Pentasomy X Pituitary Stalk Interruption Syndrome Poikiloderma[familydiagnosis.com]

  • Baller-Gerold Syndrome

    In the first family, four affected offspring had craniosynostosis and radial defect and one of them developed poikiloderma.[ncbi.nlm.nih.gov] Restrictive dermopathy Restrictive dermopathy is a rare, lethal autosomal recessive skin condition characterized by syndromic facies, tight skin, sparse or absent eyelashes[howlingpixel.com] In many cases, eyebrows, eyelashes, and body hair may also be sparse or absent.[rarediseases.org]

  • Hidrotic Ectodermal Dysplasia

    Palmoplantar Keratoderma and Congenital Alopecia, Autosomal Dominant Papillon-Lefevre Syndrome Pili Torti and Developmental Delay Pilodental Dysplasia with Refractive Errors Poikiloderma[nfed.org] , pale scalp hair short, sparse eyelashes sparse axillary and pubic hair Clinical features from OMIM: 601375 Human phenotypes related to Ectodermal Dysplasia, Hidrotic, Christianson-Fourie[malacards.org] Underdeveloped Thick, discolored Hair Fine, brittle, slow-growing Total balding (alopecia) Missing in spots for males Sparse eyelashes Sparse eyebrow Absent underarm hair[nfed.org]

  • Pfeiffer-Palm-Teller Syndrome

    […] congenital with bullae Weary type Poikiloderma hereditary acrokeratotic Weary type Poikiloderma of Kindler Poikiloderma of Rothmund-Thomson Poikilodermatomyositis mental[bioreference.net] eyelashes Low anterior hairline Postnatal microcephaly Hypertrichosis High myopia Sparse scalp hair Wide nose Thin skin Sparse and thin eyebrow Bowing of the long bones Arthrogryposis[mendelian.co] Poikiloderma congenital with bullae Weary type[?] Poikiloderma hereditary acrokeratotic Weary type[?] Poikiloderma of Kindler[?] Poikiloderma of Rothmund-Thomson[?][encyclopedia.kids.net.au]

  • Absent Thumb - Short Stature - Immunodeficiency Syndrome

    Rothmund–Thomson syndrome (RTS), also known as poikiloderma atrophicans with cataract or poikiloderma congenitale, [1] [2] is a rare autosomal recessive [3] [4] skin condition[ipfs.io] eyelashes Short ribs Accelerated skeletal maturation Rhizomelia Bowing of the long bones Sparse and thin eyebrow Abnormality of retinal pigmentation Fine hair Abnormally[mendelian.co] […] hair, eyelashes, and, or eyebrows, small stature and predisposition to skin cancer and osteosarcoma are some key features of this syndrome. {2,3} Other features in individual[pediatriconcall.com]

  • Rapp-Hodgkin Syndrome

    Palmoplantar Keratoderma and Congenital Alopecia, Autosomal Dominant Papillon-Lefevre Syndrome Pili Torti and Developmental Delay Pilodental Dysplasia with Refractive Errors Poikiloderma[nfed.org] He also had sparse eyelashes and eyebrows, and obstructed lacrimal puncta and epiphora. Bilateral bony external auditory canal stenosis led to hearing loss.[ncbi.nlm.nih.gov] […] telomere-related TERT Aplastic anemia, Dyskeratosis congenita, Pulmonary fibrosis and/or bone marrow failure, telomere-related TINF2 Dyskeratosis congenita, Revesz syndrome USB1 Poikiloderma[genda.com.ar]

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