Symptoma

Non-Syndromic Aplasia Cutis Congenita

Congenital Defect of Skull and Scalp

Granulation tissue was present in the dermis with fibroblasts and capillaries arranged perpendicular to the skin surface. Hair follicles were present in the biopsy. Some degree of spongiosis was evident. [cags.org.ae]

Acronym ACC Synonyms Congenital defect of skull and scalp Congenital scalp defect Keywords Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

Therefore, one aim of this atlas is to present a comprehensive overview of limb malformation phenotypes in order to provide the clinician with a tool that facilitates the diagnostic process. [books.google.com]

DISCUSSION: ACC is an uncommon condition presented at birth. The most common presentation is solitary lesion over the scalp but in our case they are multiple. As for as etiology is concerned it is still not clear. [jemds.com]

Here, we present two cases of aplasia cutis congenita, which represent two different types of the disease. The first case presented as non-syndromic aplasia cutis congenita of scalp, and the other case presented as a part of Bart′s syndrome. [ingentaconnect.com]

  • Ulcer

    This had resulted in ulceration with destruction of the basement membrane which can not be seen in the ulcer base even in the section stained with PAS. Basement membrane in normal skin adjacent to the ulcer was very thin. [cags.org.ae]

    Baby cried immediately after birth on examination we noticed 2 circular ulcerative lesions about 2*2.5cm and 1*1cm over the scalp. Base of the ulcer was intact parietal bone. There were no other anomalies. [jemds.com]

    These areas resemble ulcers or open wounds, although they are sometimes already healed at birth. Lesions most commonly occur on the top of the head (skull vertex), although they can be found on the torso or limbs. [ghr.nlm.nih.gov]

    These areas resemble ulcers or open wounds, although they are sometimes already healed at birth. Lesions most commonly occur on the top of the head (skull vertex). [banglajol.info]

    He presented with a well-demarcated irregular ulcerated scalp defect covering an area 10 10 cm. Outside brain computed tomography and neurosonography showed no skull defects or abnormalities. [pc.anndermatol.org]

  • Skin Lesion

    Skin lesions are typically the only feature of nonsyndromic aplasia cutis congenita, although other skin problems and abnormalities of the bones and other tissues occur rarely. [ghr.nlm.nih.gov]

    The skin lesions are usually benign, but they may be associated with other underlying disorders. [cags.org.ae]

    (PMID: 8382530) Sadlock JE … Schon EA (Biochimica et biophysica acta 1993) 2 3 4 60 Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease. [genecards.org]

    If you have a specific question or concern about a skin lesion or disease, please consult a dermatologist. [aocd.org]

    KEY WORDS: strabismus, skin, lesions INTRODUCTION The term aplasia cutis congenita refers to the con- genital absence of skin in one or more areas. [documents.tips]

  • Pruritus

    After direct inoculation, the dermatophytes invade the hair follicle, resulting in acute patchy hair loss with various degrees of erythema, pruritus, and scaling ( 15 ). [frontiersin.org]

  • Skin Atrophy

    Ambooken B...Mathew A 2018 10 Aplasia Cutis Congenita with Ischemic Cortical Change and Normal Array Cytogenetic Analysis with a Fetus Papyraceus Twin. ( 30273087 ) Skillen LA...Morrison PJ 2018 11 New features of aplasia cutis congenita type 5 - Skin [malacards.org]

  • Short Arm

    A defect in the scalp is sometimes found in cases of trisomy 13 and in about 15% of cases of deletion of the short arm of chromosome 4, the Wolf-Hirschhorn syndrome (WHS; 194190) (Hirschhorn et al., 1965; Fryns et al., 1973). [malacards.org]

    arm of chromosome 4) with midline scalp defects, Setleis syndrome with bitemporal aplasia cutis congenita and abnormal eyelashes; Johanson-Blizzard syndrome with stellate scalp defects; focal dermal hypoplasia (Goltz syndrome ); and others. [dermnetnz.org]

    A genetic basis is suspected, comprising the deletion of a fragment of the short arm of chromosome 19 (19p13.3), [ 9 ] or a mutation with autosomal dominant inheritance, located on the long arms of chromosome 1 and 12 [ 10 ]. [ncbi.nlm.nih.gov]

  • Withdrawn

    […] symbols: BMS1L, KIAA0187 ) Mouse Orthologs Bms1 (Withdrawn symbols: AA408648, AU020092, AU043373, BB007109, BC030906, Bms1l ) Source OMIM:107600 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI (gene symbols [mousephenotype.org]

  • Confusion

    Classification is based on the number and location of the lesion and modes of inheritance and associated abnormalities. 1 Cutaneous defects noted at birth may be easily confused with obstetric trauma, or from forceps or fetal scalp electrodes. [jemds.com]

    They have, thus, on occasions, been confused with bruises from suspected child abuse. [zdoc.site]

    About half of LPP cases are asymptomatic and could be confused with the more common AA as a result. The clinical features of atrophy and perifollicular scale and erythema are strongly suggestive of LPP ( 76 ). [frontiersin.org]

  • Headache

    She seems to be developing normally, although I'm a bit concerned because during the course of the last few months, she has complained of periodic headaches. [medhelp.org]

    Although long-term side effects including potential for malignancy are unknown and require discussion with patient and family, overall initial adverse events appear to be mild and largely limited to upper respiratory infections, headache, and transient [frontiersin.org]

    Acquired port wine stain of the upper eyelid after cluster headache. Ophthal Plast Reconstr Surg. 2008;24:490---2. Eerola I, Boon LM, Mulliken JB, Burrows PE, Dompmartin A, Watanabe S, et al. [zdoc.site]

  • Communicating Hydrocephalus

    Surgical debridement and covering of the defect with a local transposition flap was done, but postoperatively, he developed generalized seizures (controlled by anticonvulsants), MRSA infection of the wound, and communicating hydrocephalus which was managed [cags.org.ae]

  • Generalized Seizure

    Surgical debridement and covering of the defect with a local transposition flap was done, but postoperatively, he developed generalized seizures (controlled by anticonvulsants), MRSA infection of the wound, and communicating hydrocephalus which was managed [cags.org.ae]

Pediatric workup ruled out any other malformations or genetic disorders. All patients were treated by conservative wound and skin care without complications. In one case the formation of milia has been observed - an outcome not described before. [unboundmedicine.com]

If any associations are identified, workup for a syndromic cause should be performed and genetic counseling may be appropriate depending on the diagnosis ( 96 ). For many of these conditions, there is currently no effective treatment. [frontiersin.org]

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]

It proposes that future advances in the prevention, diagnosis, and treatment of common diseases will come as a consequence of our accelerating progress in the field of rare diseases. [books.google.com]

Therefore, prompt diagnosis and appropriate treatment are essential to avoid untoward outcomes. Management is either conservative or surgical depending on the extent of the lesions. [jemds.com]

Further studies are needed in order to investigate the etiology of the disease and to evaluate treatment methods. Keywords: Aplasia cutis congenital; Lower limbs; Malformation; Treatment. [rbcp.org.br]

2018 3 Aplasia cutis congenita: A report. ( 29547189 ) Sun H.I....GA1dA1k M. 2018 4 Aplasia cutis congenita: Evaluation of signs suggesting extracutaneous involvement. ( 29178194 ) Patel D.P....Yan A.C. 2018 5 A practical approach to the evaluation and treatment [malacards.org]

Prognosis - Aplasia cutis congenita Treatment - Aplasia cutis congenita Resources - Aplasia cutis congenita [checkorphan.org]

If the condition is associated with other abnormalities or malformations, the prognosis then depends on the nature and severity of the other condition(s). [3] Major complications of aplasia cutis congenita are rare, but can include hemorrhage, secondary [rarediseases.info.nih.gov]

Prognosis Less severe cases usually resolve within weeks to months, but alopecia persists. Underlying or associated defects may significantly affect mortality and morbidity. [orpha.net]

Prognosis The prognosis for aplasia cutis congenita (ACC) is usually excellent. If the defect is small, recovery is uneventful, with gradual epithelialization and formation of a hairless, atrophic scar over several weeks. [emedicine.medscape.com]

Evers et al. (1995) provided a list of disorders associated with aplasia cutis congenita, classified according to etiology. [malacards.org]

Aplasia cutis congenita: three cases with three different underlying etiologies. Turk J Pediatr. 2009 Sep-Oct;51(5):510-4. [ghr.nlm.nih.gov]

As for as etiology is concerned it is still not clear. The proposed mechanisms include genetic factors, 6 teratogens, 7 (like antithyroid drugs), vascular compromise of the skin and trauma. [jemds.com]

Although there have been reports of familial occurrences of ACC, genetic etiology of disease is not fully understood. Both autosomal dominant and recessive modes of inheritance have been noticed in Aplasia Cutis. [cags.org.ae]

Etiology Etiology is manifold; genetic factors, teratogens, amniotic adhesion, vascular anomalies, pharmacological agents (e.g. methimazole, benzodiazepines), intrauterine trauma and infections have all been implicated. [orpha.net]

Epidemiology Incidence : 0.03% of newborns III. Pathophysiology Congenital absence of skin Embryo nic defect present in a small subset of patients IV. Signs Bulla, ulceration or atrophic lesion V. [fpnotebook.com]

Summary Epidemiology Incidence is approximately 1/10,000 births. Clinical description ACC is noticed immediately at birth and usually presents as a solitary lesion on or near the vertex. [orpha.net]

The entry for each disease includes its epidemiology, laboratory findings, genetics, pathogenesis, cutaneous and extracutaneous findings, differential diagnosis, disease course, complications, and follow-up and therapy, where appropriate. [routledge.com]

Epidemiology Frequency Aplasia cutis congenita (ACC) is an uncommon anomaly of newborns. [emedicine.medscape.com]

Pathophysiology Congenital absence of skin Embryo nic defect present in a small subset of patients IV. Signs Bulla, ulceration or atrophic lesion V. Distribution Most often at the scalp near the vertex VI. [fpnotebook.com]

IRCCS Ca' Granda - Ospedale Maggiore Policlinico, University of Milan, Italy Michela Brena, MD,Post-Graduate School of Dermatology and Venereology, University of Milan, Italy Carlo Gelmetti, MD,chairman of the Pediatric Dermatology Unit, Department of Pathophysiology [routledge.com]

Pathophysiology The exact pathophysiology of aplasia cutis congenita (ACC) is unclear. Proposed mechanisms include intrauterine trauma, vascular compromise, infection, and medications. [emedicine.medscape.com]

A better understanding of the pathophysiologic mechanisms underlying the involution of salmon patches could help to guide the treatment of capillary malformations that do not resolve spontaneously. [zdoc.site]

It proposes that future advances in the prevention, diagnosis, and treatment of common diseases will come as a consequence of our accelerating progress in the field of rare diseases. [books.google.com]

Your skin Holds body fluids in, preventing dehydration Keeps harmful microbes out, preventing infections Helps you feel things like heat, cold, and pain Keeps your body temperature even Makes vitamin D when the sun shines on it Anything that irritates [medlineplus.gov]

Mild forms of the disease can be managed by gentle cleansing of affected areas along with the application of ointments to prevent drying out. [cags.org.ae]

Exposed large veins and sagittal plexus demand urgent surgical approaches to prevent fatal hemorrhages or infections. [unboundmedicine.com]

Prevention - Aplasia cutis congenita Not supplied. Diagnosis - Aplasia cutis congenita Not supplied. Prognosis - Aplasia cutis congenita Treatment - Aplasia cutis congenita Resources - Aplasia cutis congenita [checkorphan.org]