Symptoma

Familial Progressive Hyper- and Hypopigmentation

MUH

BACKGROUND: Familial progressive hyper- and hypopigmentation (FPHH) is an autosomal dominant skin condition presenting in childhood with generalized macular dyspigmentation, usually reported in patients of East Asian origin. [ncbi.nlm.nih.gov]

Abstract BACKGROUND Familial progressive hyper- and hypopigmentation (FPHH) is an autosomal dominant skin condition presenting in childhood with generalized macular dyspigmentation, usually reported in patients of East Asian origin. [wwww.unboundmedicine.com]

The authors believed that FPHH is distinct from FPH, in which no hypopigmented features are present. [ijdvl.com]

Format Definition A disorder characterized by hyperpigmented patches in the skin, present in early infancy and increasing in size and number with age. [uniprot.org]

Aim We report two unrelated white families with similar phenotypic presentations of FPHH developing in early childhood in several generations. Methods Sanger sequencing of the exons and flanking introns of KITLG was performed. [kclpure.kcl.ac.uk]

  • Increased Susceptibility to Infections

    Thirdly, the girl had mild mental retardation, epileptic seizure that happened frequently during the first year, impaired temperature regulation (hyperthemia) and increased susceptibility to infection. [ijdvl.com]

    It includes immunodeficiency in its phenotype, and patients have an increased susceptibility to infections as a consequence of neutropenia. The gene maps to 5q14.1. [plasticsurgerykey.com]

  • Hyperthermia

    The epileptiform seizure was always accompanied by hyperthermia, frequently over 40 C. Anticonvulsant therapy has been used for controlling this seizure for one year. She had a history of repeated infections. [ijdvl.com]

  • Pharyngitis

    Of the six affected individuals examined by us, two had cancer: a 62-year-old man in family 1 had developed two primary melanomas and a pharyngeal carcinoma, and a 42-year-old woman in family 2 had developed thyroid carcinoma. [ncbi.nlm.nih.gov]

    Thymic Aplasia (DiGeorge Syndrome) Immune deficiency T-Cell Deficiency Failure of development of the 3 rd and 4 th Pharyngeal Pouches ------ agenesis of the thymus and parathyroid glands. T-Cell deficiency from no thymus. [kumc.edu]

  • Macula

    Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae [orpha.net]

    Clinical signs consist of progressive diffuse, partly blotchy hyperpigmented lesions, multiple café-au-lait spots, intermingled with scattered hypopigmented-appearing maculae, and lentigines. [ncbi.nlm.nih.gov]

    Clinical signs consist of progressive diffuse, partly blotchy hyperpigmented lesions, multiple cafe'-au-lait spots, intermingled with scattered hypopigmented-appearing maculae and lentigines. [ijdvl.com]

    Clinical signs consist of progressive Diffuse, partly blotchy Hyperpigmented lesions, Multiple café-au-lait spots, intermingled with Scattered hypopigmented-appearing maculae, and lentigines [15]. [gulfdoctor.net]

    CNS degeneration, retardation, cherry red-spot of macula, blindness (amaurosis). Death before age 4. Albinism Nitrogen Metabolism Defect Autosomal Recessive. Tyrosinase deficiency ------ inability to synthesize melanin from tyrosine. [kumc.edu]

  • Cafe-Au-Lait Spots

    Back to: « Hyperpigmentation Symptoms of Familial progressive hyperpigmentation with or without hypopigmentation Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of the integument Cafe-au-lait spot Hyperkeratosis Hypermelanotic [familydiagnosis.com]

    '-au-lait spots, a single amino-acid change in KITLG was reported. [ijdvl.com]

    The arrows denote the margin of a large and fading cafe-au-lait spot on his thigh (a). 218 Hoo and Shrimpton [docslide.net]

    The arrows denote the fewlargeand faint cafe-au-lait spots onhis left chest (a) andonhis lumbar region(b). [myslide.es]

  • Hypopigmented Skin

    Hyperpigmentation Symptoms of Familial progressive hyperpigmentation with or without hypopigmentation Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of the integument Cafe-au-lait spot Hyperkeratosis Hypermelanotic macule Hypopigmented [familydiagnosis.com]

    DUH is characterized by sharply demarcated brown macules of various sizes on diffusely hypopigmented skin, typically involving the head, anterior chest, abdomen and extremities mostly without involvement of palms and soles. [ijdvl.com]

    The hair shafts show uneven clusters of aggregated melanin pigment, mainly in the medulla. 315 ELEJALDE SYNDROME The Elejalde syndrome (OMIM 256710) is a rare autosomal recessive disorder characterized by the triad of silvery hair, hypopigmented skin [plasticsurgerykey.com]

    Also, over time, melanocytes may produce more pigment and differences between normal and hyperpigmented or hypopigmented skin may become more evident. [clinicalgate.com]

  • Skin Patch

    patches Progressive hyperpigmentation Vitiligo Types of Familial progressive hyperpigmentation with or without hypopigmentation Some types of this condition may include: 3 Types of Familial progressive hyperpigmentation with or without hypopigmentation [familydiagnosis.com]

  • Generalized Seizure

    The longest persistence time of a generalized seizures exceeded 10 h. The epileptiform seizure was always accompanied by hyperthermia, frequently over 40 C. Anticonvulsant therapy has been used for controlling this seizure for one year. [ijdvl.com]

Dr Manjit Kaur may use diagnostic blood tests and scalp biopsies as part of the diagnostic workup. [thelondonskinandhairclinic.com]

[…] performed. [3] If there is an affected parent it is unlikely that the child has a deletion extending to WT1, although rare cases have been reported. [3] Tests Table 1: Genetic Tests for Aniridia by Phenotype and Family history [3] Testing Strategy Clinical Workup [eyewiki.aao.org]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

Broaden your knowledge with updated information on serological diagnosis of pemphigus, TNF-I for hidradenitis suppurativa, the use of immunosuppressives for atopic dermatitis, excimer laser for the treatment of vitiligo and much more. [books.google.com]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

You can help by adding to it. ( May 2018 ) Treatments [ edit ] Often, hypopigmentation can be brought on by laser treatments; however, the hypopigmentation can be treated with other lasers or light sources. [6] Treatment for hypopigmentation depends on [en.wikipedia.org]

Prognosis for MAS is generally favorable and the development of malignancy is rare. [clinicalgate.com]

While the prognosis is dependent on the primary tumor, a study found that the average life expectancy after developing skin metastases was three months. [bobbybukamd.com]

Prognosis in MVP syndrome is better than for MVP in Marfan syndrome, with significantly lower risk for mitral regurgitation. [nature.com]

Penetrating keratoplasty (PK) may be considered; however, PK alone has a poor prognosis, probably due to the primary limbal stem cell insufficiency. [eyewiki.aao.org]

The prognosis for life is good and the pathological fractures unite normally. [drmhijazy.com]

When noninvasive measures are equivocal, a biopsy may help to clarify the underlying etiology. [dermatologyadvisor.com]

Although the precise etiology of this disorder is not yet known, the clinicopathological findings implicate an inherent abnormality of melanosomes or melanin processing [20]. [gulfdoctor.net]

Dermatologist c/o InMedica - Centro Medico Polispecialistico Largo XII Ottobre 62 cell 335.655.97.70 - office 010 5701818 www.lucianoschiazza.it Progressive macular hypomelanosis (PMH) is a condition of unknown etiology characterized by macules that are [lucianoschiazza.it]

ALBRIGHT'S SYNDROME Etiology The cause of this syndrome is unknown. The full syndrome with precocious puberty occurs only in girls. [drmhijazy.com]

20% of patients Koilonychia is present in 50% Localized ichthyosis in 40% Alopecia is common 15 Hemochromatosis Dx: Elevated plasma iron and IBP High serum ferritin without an obvious cause should prompt investigation for both hemochromatosis and PCT Etiology [slideplayer.com]

[…] macularis eruptiva perstans Typical urticaria pigmentosa Primary familial polycythemia Synonym(s): - FPHH Classification (Orphanet): - Rare genetic disease - Rare skin disease Classification (ICD10): - Diseases of the skin and subcutaneous tissue - Epidemiological [csbg.cnb.csic.es]

This chapter covers the epidemiology, pathophysiology, clinical presentation, histopathology, differential diagnosis, and treatment of both common and rare genetic hyperpigmentation disorders. [link.springer.com]

Differential Diagnosis and Management of Dermal Melanocytosis View Table Favorite Table Download (.pdf) Table 75-1 Differential Diagnosis and Management of Dermal Melanocytosis Nevus of Ota Nevus of Ito Mongolian Spot Nevus of Hori Dermal Melanocyte Hamartoma Epidemiology [mhmedical.com]

(This literature review outlines epidemiologic studies on PIH and offers a guide for diagnosis and treatment of PIH in patients with Fitzpatrick skin types IV-VI.) Halder, RM. [dermatologyadvisor.com]

Relevant External Links for KITLG Genetic Association Database (GAD) KITLG Human Genome Epidemiology (HuGE) Navigator KITLG Atlas of Genetics and Cytogenetics in Oncology and Haematology: KITLG No data available for Genatlas for KITLG Gene Allelic Mutations [genecards.org]

This chapter covers the epidemiology, pathophysiology, clinical presentation, histopathology, differential diagnosis, and treatment of both common and rare genetic hyperpigmentation disorders. [link.springer.com]

[…] fluorouracilAntimalarial drugsArsenicBleomycinBusulfanClofazimineDoxorubicinGoldOral contraceptives SilverTetracycline TraumaBurnsIatrogenic Chemical peels Cryotherapy Dermabrasion Laser therapyMechanical injury MiscellaneousAcnePityriasis albaSeborrheic dermatitis Pathophysiology [dermatologyadvisor.com]

Ascending aortic dilatation associated with bicuspid aortic valve: pathophysiology, molecular biology, and clinical implications. Circulation 2009; 119 : 880–890. 17. Janssens K, Vanhoenacker F, Bonduelle M, et al. [nature.com]

More recent studies have confirmed that oxidative stress is involved in the pathophysiology of vitiligo. 153. and 154. [plasticsurgerykey.com]

The information presented here is not intended to diagnose, treat, cure or prevent any disease. Read disclaimer. [gulfdoctor.net]

[…] fungus and therefore predilection for people with increased sebaceous activity) during the summer months when unaffected skin tans normally, but the lesions remain relatively hypopigmented because the organism produces an inhibitor of tyrosinase, which prevents [lucianoschiazza.it]

The goal of treatment is to prevent secondary infection and to allow the lesions to heal on their own. [bobbybukamd.com]

Filtration surgery success rate ranges from 66% to 100%. [3] Prophylactic goniotomy is quite effective in the prevention of glaucoma in patients with early signs of angles changes. Success rates ranges from 89% to 100%. [eyewiki.aao.org]

Classical homocystinuria: vascular risk and its prevention. J Inherit Metab Dis 2003; 26 : 259–265. 64. Salo AM, Cox H, Farndon P, et al. A connective tissue disorder caused by mutations of the lysyl hydroxylase 3 gene. [nature.com]