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24 Possible Causes for Focal Keratoderma of Soles, Microcephaly

  • Growth Hormone Deficiency

    Palmoplantar keratoderma (PPK) is a diverse group of disorders, characterized by thickening of the palms and soles, which are subdivided into focal or diffuse; it can be acquired[ncbi.nlm.nih.gov] […] characterization of the clinical and molecular basis of a novel autosomal-recessive syndrome manifesting severe mental retardation, ataxia, speech impairment, epilepsy, short stature, microcephaly[ncbi.nlm.nih.gov] […] to intracranial lesions (anosmia or visual deficits) are findings that require exclusion of GHD as the underlying cause, while neonatal signs include prolonged jaundice, microcephaly[symptoma.com]

  • Diffuse Palmoplantar Keratoderma

    […] involving the whole of the palms and soles. [1] : 506-8 [2] : 213 Focal Focal palmoplantar keratoderma, a type of palmoplantar keratoderma in which large, compact masses[like2do.com] […] pressure areas of palms and soles Birth No No H, F H Naxos Disease EKG Cardiologist CEDNIK syndrome Cerebral dygenesis, neuropathy, ichthyosis and keratoderma 757.4 SNAP29 Microcephaly[dermatologyadvisor.com] Focal keratodermas mainly affect pressure areas. Punctate-type keratodermas result in tiny bumps on the palms and soles.[dermnetnz.org]

  • Palmoplantar Keratosis

    […] x-linked dominant condition that begins in early childhood with thick focal keratoderma over the soles and, to a lesser extent, the palms.[en.wikipedia.org] […] impairment Cutaneous photosensitivity Glaucoma Infantile onset Hyperhidrosis Ichthyosis Fragile nails Diffuse palmoplantar keratoderma Mandibular prognathia Short stature Microcephaly[mendelian.co] […] reported by Sensi et al. ( 27 ), had mutilating PPK with bilateral symmetric hearing loss of cochlear origin, but also congenital anomalies including cleft lip and palate, microcephaly[dx.doi.org]

  • Erythema Palmaris Hereditarium

    […] involving the whole of the palms and soles. [1] :506–8 [2] :213 Focal Focal palmoplantar keratoderma, a type of palmoplantar keratoderma in which large, compact masses of[ipfs.io] XERODERMA PIGMENTOSUM Is also known as xeroderma pigmentosum i xp1 xp, group a xp Related symptoms: Intellectual disability Seizures Short stature Hearing impairment Microcephaly[mendelian.co] […] disease lymphocytic infiltrate of Jessner Job syndrome hyper IgE s. with red hair, atrophic nails, hyperextensible joints, cold abscesses Johanson-Blizzard syndrome AR; microcephaly[dermadvocate.net]

  • Pachyonychia Congenita

    Fig 2: Showing focal keratoderma on soles. Fig 3: Showing pachyonychia in hands and feet. Fig 4: Showing leukoplakia on tongue and angular cheilitis of mouth.[edoj.org.eg] We report an infant who had clinical features consistent with pachyonychia congenita type II, with unusual features of microcephaly, seizures, electroencephalogram abnormalities[ncbi.nlm.nih.gov] The predominant features common to both types are thick nails (hypertrophic nail dystrophy), thick skin on the palms and soles (focal palmoplantar keratoderma) and a white[metrohealth.net]

  • Pachyonychia Congenita Type 1

    Fig 2: Showing focal keratoderma on soles. Fig 3: Showing pachyonychia in hands and feet. Fig 4: Showing leukoplakia on tongue and angular cheilitis of mouth.[edoj.org.eg] […] muscular dystrophy autosomal dominant macrothrombocytopenia TUBB1-related autosomal dominant mental retardation 55 autosomal dominant mental retardation 56 autosomal dominant microcephaly[rgd.mcw.edu] Pachyonychia congenita Clinical features of pachyonychia congenita Palms and soles Thickened or calloused palms and soles (palmoplantar hyperkeratosis or keratoderma , particularly[dermnetnz.org]

  • Epidermolysis Bullosa Simplex Type Cockayne-Touraine

    ., belt line) Generalized Generalized Generalized Grouped (herpetiform) No No Sometimes Yes Mucosal Rare Occasionally Occasionally Often Hyperkeratosis of palms & soles (keratoderma[ncbi.nlm.nih.gov] Epididymitis Epilepsy benign neonatal dominant form Epilepsy benign neonatal recessive form Epilepsy juvenile absence Epilepsy mental deterioration Finnish type Epilepsy microcephaly[bioreference.net] Extrasystoles short stature hyperpigmentation microcephaly[?] Eye defects arachnodactyly cardiopathy[?] Eyebrows duplication syndactyly[?][encyclopedia.kids.net.au]

  • Neu-Laxova Syndrome Type 2

    focal keratoderma over the soles.[plasticsurgerykey.com] -ia) is a congenital disorder of a limb resulting from a disturbance in embryonic development . [1]Microcephaly is a descriptive term meaning a small head and is associated[xaydungviet.info] Affected patients have abnormal craniofacial features, microcephaly, intrauterine growth retardation, ichthyosis, flexion deformities, limb malformations, and edema of the[malacards.org]

  • Lamellar Ichthyosis

    […] and soles ( Lucker et al., 1994 ).For a discussion of phenotypic and genetic heterogeneity of palmoplantar keratoderma, see epidermolytic PPK ( OMIM ).[mendelian.co] Crouzon's d. calcinosis cutis, Raynaud's phenomenon, esophageal dysfunction, sclerodactyly, telangiectasia partial 5p deletion; hypertelorism, microcephaly, MR, high-pitch[readbag.com] (almost all genetic) - Patient will have palmoplantar keratodermas (PPKs; calluses), which is hyperkeratosis of the palms and soles - Can be diffuse, focal or punctate -[flashcardbook.com]

  • Cooks Syndrome

    […] on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet.[ncbi.nlm.nih.gov] Teebi and Pardeep Kaurah, Total anonychia congenita and microcephaly with normal intelligence: A new autosomal‐recessive syndrome?[doi.org] This one pours a dark slightly hazy reddish color, with a small head, and lots of lacing.[beeradvocate.com]

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