Absence Of Skin Research Articles

A Rare Case of Nail Lichen Planus

Background: Nail lichen planus (NLP) is often associated with the involvement of other mucocutaneous sites. Though isolated nail involvement can be seen in a number of cases, it is seen in up to 10% of cases. Nail lichen planus is a rare case. This is the first case in the last 5 years in the dermatology and venereology department of Dr. M. Djamil Hospital Padang.
 Case presentation: A 26 years old woman came to the Dermatology and Venereology Department at Dr. M. Djamil Hospital Padang with all of her fingernails and toenails ridging, thinning, and brittle, and the color became yellow brown-blackish that worsened 6 months ago. This complaint had been suffered for 5 years ago. Dermatological examination showed onychodystrophy, longitudinal ridging and fissuring, yellow-brownish blackish discoloration on all fingernails and toenails, and there were no skin and mucosa lesions. The dermatology life quality index (DLQI) patient was 8. Potassium hydroxide (KOH) examination and fungal culture were negative. Histopathological examination showed hypergranulosis and sawtooth rete ridges. The patient was treated with clobetasol propionate 0,05% ointment with occlusion twice per day and showed improvement.
 Conclusion: Nail lichen planus can occur in the absence of skin or mucosal involvement. In this case, there is no skin or mucosal involvement. The diagnosis in this case is based on clinical, dermoscopic, and histopathological examination.

Aplasia Cutis Congenita: An Often Isolated Clinical Finding

Aplasia cutis congenita (ACC) is a rare congenital condition characterised by the absence of skin, with or without the absence of underlying structures. Can appear as an isolated lesion or associated with other congenital malformations. The approach can be conservative or surgical.We report a case of a full-term male newborn with two adjacent ulcerated lesions with well-demarcated limits in the upper occipital region (20 and 4-5 mm diameter). Other alterations that could be associated with aplasia cutis were identified at examination, so the patient was referred to several consultations, and other system involvement was excluded. Re-evaluation at the first month of life revealed complete healing and conservative treatment was kept.After identification of ACC should be excluded other associated congenital malformations. Particularly if large skin defects or bone involvement is detected (higher risk of complications and mortality).

Bart Syndrome

Background: Bart syndrome is one of the rarest forms of aplasia cutis congenita (ACC). Clinical Description: We report a sporadic case of a neonate presenting with the absence of skin on the lower limb, tense blisters on fingers, and nail dystrophy. Management: Clinical features and skin biopsy confirmed the diagnosis of Bart syndrome. The baby was given symptomatic treatment with regular antimicrobial dressing. Within 2 weeks, the defect healed with the formation of hypopigmented scar and milia. The bullous lesions also disappeared completely. Conclusion: Bart syndrome, which is a type of ACC, is an extremely rare occurrence. Although it has an extensive involvement, the lesions if superficial, limited to the epidermis, have a good prognosis. Conservative management is sufficient to cause healing within a short span of time.

A Rare Case of Cutis Aplasia Congenita in a Newborn

A Rare Case of Cutis Aplasia Congenita in a Newborn

BART SYNDROME: CONGENITAL APLASIA CUTIS TYPE VI

Bart’s syndrome is described as absence of skin in a localized area by birth also called Aplasia cutis congenital type VI. It may be concomitant with any type of EB but the most common cases reported are allied with dystrophic epidermolysis bullosa (DEB dominant). The clinical presentation of this disease is that the areas of the body which are prone to injury area lacking skin e.g. hands and feet. Diagnosis is done by clinical examination and but for proper disease classification microscopic examination is required only symptomatic treatment is done. Our case is of a neonate who presented with wide-denuded erythematous areas on the neck, upper and lower limbs. Clinical examination helped us to reach the final diagnosis that is Bart’s syndrome.

A rare case of extensive aplasia cutis congenita: Our surgical approach

Aplasia cutis congenita (ACC) is a rare disorder resulting in the absence of skin or deeper layers, most often involving an isolated small area on the scalp. However, extensive cutis aplasia involving multiple large critical areas of the body is extremely uncommon and remains a challenging condition to manage. Initial concerns involve early mortality from excessive moisture loss, hypothermia, bleeding, sepsis, and brain herniation while subsequent sequelae from delayed wound healing resulting in scarring and loss of function also provide numerous management dilemmas. Conservative treatment with dressings, which typically allows epithelisation in small cases, is inadequate. Surgical approaches described such as skin grafts and rotational flaps are also insufficient in extensive ACC involving the chest and entire scalp. In this article, we present how our centre successfully treated a patient with a large total body surface area of ACC involving the entire scalp, neck, forehead, chest, trunk, lateral flanks, and patchy areas of all four limbs.

A Case Of Congenital Aplasia Cutis Occupying A Large Area On The Scalp

Aplasia cutis congenita (ACC) is a rare heterogeneous group of diseases characterized by the absence of skin at birth. It affects males and females equally. It is usually located on the scalp and can be in different sizes from 0.5 up to 15 cm. Typically, it is sporadic, although hereditary cases have also been reported. In cases with bone tissue absence under the lesion, the risk of developing complications increases, and surgical intervention may be required. In this article, we presented a rare case of ACC without underlying bone tissue that covers a very large area on the scalp. In this case, the lesion epithelialized with local treatment without need for any reconstructive surgery.

Occupational Therapy for a Child with Aplasia Cutis Congenita with Congenital Volkmann's Ischemic Contracture

Aplasia cutis congenita is a rare malformation characterized by focal or extensive absence of epidermis, dermis, and occasionally subcutaneous tissue. Congenital Volkmann's ischemic contracture is a rare neonatal compartment syndrome caused by intrauterine ischemia and external compression. This is a challenging case for an occupational therapist (OT) focusing on the improvement of hand deformities and function in a child. The objective was to assess the effectiveness of occupational therapy intervention in correcting contracture and improving hand movement. A 4-day-old male child from the neonatal intensive care unit, presented with absence of skin over the right forearm with contracture of right hand, ulnar deviation, and skin discoloration over right hand. Patient was assessed for movement, strength, and level of contracture. Treatment was focused on correcting contracture, improving hand movements, and maintaining skin integrity with the help of splinting and therapeutic exercises. A significant improvement was seen in finger ranges, wrist ranges, hand movements, and skin color. To conclude, splinting techniques helped to stretch out contracture and correct the position of the hand and improvement in hand function.

A CASE REPORT OF APLASIA CUTIS CONGENITA TYPE VI: BART'S SYNDROME

Aplasia cutis congenita type VI (Barts syndrome), is a rare genetic disorder characterized by congenital localized absence of skin, formation of blisters (epidermolysisbullosa), and nail abnormalities. In this report, we present a rare case of aplasia cutis congenita type VI (Barts syndrome) in a newborn malebaby with the absence of a skin layer over the anterior right leg, slightly below the patella (kneecap) and around the ankle joint.On the second day, the affected areas developed blisters characterizing epidermolysisbullosa.Laboratory investigationswere all normal. The patients wound was managed conservatively with dressing and topical antibiotic ointments.

Lichen Planus.

Lichen planus (LP) is a T cell-mediated disease affecting the stratified squamous epithelia of the skin and/or mucus membrane. Histologically, the disease is characterized by a lichenoid inflammatory infiltrate and vacuolar degeneration of the basal layer of the epidermis. LP has three major subtypes: Cutaneous, mucosal and appendageal LP. Rarely, it may affect the nails in the absence of skin and/or mucosal changes. LP may also be induced by several drugs, typically anti-hypertensive medication or be associated with infections, particularly viral hepatitis. The diagnosis is based on the clinical presentation and characteristic histological findings. Although the disease is often self-limiting, the intractable pruritus and painful mucosal erosions result in significant morbidity. The current first-line treatment are topical and/or systemic corticosteroids. In addition, immunosuppressants may be used as corticosteroid-sparing agents. These, however are often not sufficient to control disease. Janus kinase inhibitors and biologics (anti-IL-12/23, anti-IL17) have emerged as novel future treatment options. Thus, one may expect a dramatic change of the treatment landscape of LP in the near future.

Hyaline fibromatosis syndrome: a case presenting with gingival enlargement as the only clinical manifestation and a report of two new mutations in the ANTXR2 gene

BackgroundHyaline fibromatosis syndrome (HFS) is a rare autosomal recessive disorder caused by mutations in the gene for anthrax toxin receptor-2 (ANTXR2). The clinical features of HFS include skin thickening with nodules, papules and plaques, gingival enlargement, joint stiffness and contractures, and systemic manifestations. Notably, in all patients with HFS reported in the literature, gingival enlargement has never occurred alone.Case presentationA case of a child with gingival enlargement as the only clinical manifestation, who was later diagnosed with HFS, is described. In this case, the absence of skin and joint lesions and other characteristic clinical presentations gave rise to a diagnostic problem. This uncommon condition was clinically indistinguishable from other diseases or conditions that presented with diffuse gingival enlargement. A definitive diagnosis of HFS was reached through genetic analysis. Trio whole exome sequencing revealed compound heterozygous mutations of ANTXR2 in this patient and two new mutations were reported.ConclusionsThe findings of this case serve as an important reminder to clinicians. When dental practitioners encounter gingival manifestations of HFS without accompanied skin or joint involvement, there is a need to pay attention to the differential diagnosis and increase awareness of HFS.

A complex scalp resurfacing utilizing Integra® as temporary dressing in aplasia cutis congenita

BACKGROUND: Aplasia cutis congenita is a rare newborn malformation characterized by focal absence of skin. It possesses difficulty in reconstruction surgery for neurosurgeons and plastic surgeons. We report a challenging case of aplasia cutis congenita who received treatment in our center.
 CLINICAL CASE: A 2-year-old boy, presented to Plastic and Reconstructive Surgery, Hospital USM, with bilateral vertex defect with encephalocele who received a series of surgical interventions since 1 month old. Unfortunately, he returned after 2 years with a chronic nonhealing scalp wound associated with dura defect and cerebral spinal fluid leakage. The wound was debrided and the swab culture result showed no organism growth. Part of the wound bed with dura defect was repaired using a small piece of transplanted fascia lata and Integra was applied.
 DISCUSSION: There is scarcity in the medical literature on the reconstructive technique of aplasia cutis congenita. In the case we described here, we successfully managed the wound with multiple application of dermal substitute (Integra) dressing with negative pressure wound therapy and split-thickness skin graft.
 CONCLUSIONS: Management of aplasia cutis congenita with skull defect remains a controversy. Its management varies depends on its pattern and underlying condition. We successfully develop a new simple method in treating scalp accutilizing Integra.

Multiple aplasia cutis congenita type V and fetus papyraceous: a case report and review of the\xa0literature

BackgroundAplasia cutis congenita is regarded as congenital focal absence of skin in the newborn, and occurrence of more than three similar skin defects is rare. The etiology is thought to be multifactorial, and precise etiopathogenesis is unknown.Case presentationA 13-day-old newborn Sri Lankan Tamil girl was referred to the dermatologic clinic with multiple skin defects at birth. There were six lesions on the body, and two of them had healed during intrauterine period, leaving scars. This was a second twin of her pregnancy. Her first twin fetus had demised before 19 weeks of pregnancy and was confirmed to be fetus papyraceous based on ultrasound-guided fetal assessment. The said child was thoroughly investigated and found to have no other congenital abnormalities. Chromosomal studies yielded normal findings. She was treated with tropical antibacterial ointment, and all lesions resolved spontaneously within 4 weeks, leaving scars. Physiotherapy was commenced to prevent contracture formation, and follow-up was arranged in collaboration with the plastic surgical team.ConclusionsAplasia cutis congenita is a rare condition of uncertain etiology, but consanguinity may play a role. This report described a newborn with type V cutis aplasia congenita in whom the diagnosis was confirmed based on clinical features and revision of antenatal history. The management depends on the pattern, extent, location, severity, underlying causes, and associated anomalies.

Approach in Management of Aplasia Cutis Congenita in a Newborn with Adam Oliver Syndrome

Introduction: Aplasia Cutis Congenita (ACC) is a rare congenital disorder characterized by the absence of skin and adjacent tissue that usually affect the scalp. A large scalp defect in ACC with adjacent tissue anomalies is associated with high morbidity and mortality. The management of these lesions can be challenging. The treatment can be either conservative, surgical, or combined. Case: A full-term newborn girl delivered with a huge scalp defect. The dura mater was exposed but intact and there was no Cerebrospinal Fluid (CSF) leakage. She also had bilateral talipes equinovarus and terminal reduction of multiple toes in the left foot. Genetic testing was positive for Adam Oliver Syndrome. Conservative medical management was initiated at birth and continued until discharge at 4 weeks of age. The patient had a regular follow-up with plastic surgery and neurosurgery teams. At 11 months old, the defect became smaller, hairless with good granulation tissue, but still soft and compressible. Conclusion: Large scalp midline ACC is a rare, but potentially devastating disease when involved adjacent tissue. The choice of treatment is not straightforward and it is mainly based upon the size, depth, and the risk of pre and post-treatment complications. Conservative management still is an option with very complex ACC.

A case of aplasia cutis type VI (Bart’s syndrome) at University of Abuja Teaching Hospital Gwagwalada, Abuja, Nigeria

Aplasia cutis type VI, commonly referred to as Bart’s syndrome, is a rare genetic disorder characterized by congenital localized absence of skin commonly in the lower limbs, epidermolysis bullosa, and sometimes dystrophic nails. We present a 2-hour-old male infant who presented with congenital absence of skin over both lower limbs at birth. He developed blisters in keeping with epidermolysis bullosa 24 hours after birth. Examination and investigations revealed no systemic involvement. An assessment of aplasia cutis type VI (Bart’s syndrome) was made. He was managed conservatively and wounds showed progressive re-epithelialization.

Novel phenotype of syndromic premature ovarian insufficiency associated with TP63 molecular defect.

There is growing evidence that TP63 is associated with isolated as well as syndromic premature ovarian insufficiency (POI). We report two adolescent sisters diagnosed with undetectable ovaries, uterine hypoplasia, and mammary gland hypoplasia. A novel paternally inherited nonsense variant in TP63 [NM_003722.4 c.1927C > T,p.(Arg643*)] in exon 14 was identified by exome sequencing. One of the syndromes linked to TP63 is limb mammary syndrome (LMS), an autosomal dominant inherited disorder characterized by ectrodactyly, hypoplasia of mammary-gland and nipple, lacrimal duct stenosis, nail dysplasia, dental anomalies, cleft palate and/or cleft lip and absence of skin and hair defects. The TP63 variant segregated with symptoms of LMS in the family, however, no affected individual had limb defects. The phenotype reported here represents a novel syndromic phenotype associated with TP63. Reported cases with TP63 associated POI are reviewed.

Aplasia cutis congenita as a consequence of fetal reduction in a triplet pregnancy

Abstract Background Aplasia cutis congenita (ACC) is a rare skin disorder characterized by a localized absence of skin at birth. It has been linked to both assisted reproductive technology (ART) and feto-reduction procedures. Group V ACC presents with a distinct, symmetrical distribution pattern. It is thought to result from an insult to the fetus after concomitant twin demise and is almost exclusively reported in monochorionic gestations. Case presentation We report a rare case of Group V ACC in a dichorionic, triamniotic (di-Tri) triplet in-vitro fertilization (IVF) pregnancy subsequent to feto-reduction. The lesions were managed conservatively. Conclusion ACC in multi-fetal pregnancies is a rare, but widely described complication. With increased incidence of ART-associated pregnancies and the use of feto-reduction for multiple pregnancies, this may become a more common phenomenon. Neonatologists and obstetricians should be aware of this complication and counsel their feto-reduction patients on the risks. This case is interesting because, to the best of our knowledge, there have been only nine reported cases of Group V ACC in triplet or higher order gestations.

396. Clinical Features of Proven and Probable Cases of Histoplasmosis and the Role of Urinary Histoplasma Antigen Testing: A Case Series From India

BackgroundHistoplasmosis is considered uncommon in India, and the diagnosis usually depends on invasive tissue sampling. The histoplasma urinary antigen assay is a non-invasive test that has been recently introduced in India.MethodsThis was a single-centre retrospective study done from January 2013 till February 2018. Case records of patients with proven (confirmed by demonstrating intra-cellular yeast like organisms on histopathology or culture) and probable (presence of antigenuria—done by IMMY Alpha Histoplasma enzyme immunoassay) histoplasmosis were analysed.ResultsA total of 37 patients (18 proven and 19 probable) with mean age of 51.59 ± 11.17 years were studied. Diabetes was the most common co-morbidity (15 patients) followed by HIV (6), whereas no co-morbidity was found in 10 patients. Adrenals (29%), lungs (27%), lymph nodes (27%), and skin and oral mucosa (24.3%) were the most common organs involved (Figure 1). Anti-tubercular therapy based on granulomatous inflammation was given to 10 patients prior to the diagnosis. Raised GGTP and ALP (54%) and hyperglobulinemia (40%) were the common laboratory features. Most patients (83.7%) came from endemic areas (North-Eastern states, West Bengal, and Bangladesh) whereas all six cases from non-endemic areas were classified as probable (Figure 2). All-cause mortality rate was 10.8%, with 27 cases (72.9%) showing improvement at a median follow-up of 6 months. Comparison of proven and probable cases revealed that the following features were significantly higher in theprobable group: female sex (P = 0.001), coming from nonendemic areas (P = 0.009), requiring in-patient care (P = 0.001), leucocytosis (P = 0.043), absence of skin and oral mucosal findings (P = 0.002), simultaneous alternate diagnosis (P = 0.039), and death (P = 0.039).ConclusionThis study emphasises that histoplasmosis is an under recognised entity in India. Histoplasma antigenuria does help in making the diagnosis easily and needs to be more extensively utilized by clinicians. However, it can yield false-positive results in patients belonging to nonendemic areas and lacking typical clinical features of histoplasmosis. Further studies are needed to determine the utility of the antigen test in Indian settings.Figure 1.Distribution of involved organs.Figure 2.Distribution of cases in the study across Indian states.Disclosures All authors: No reported disclosures.

Intravascular NK/T-cell lymphoma, Epstein\u2013Barr virus positive with multiorgan involvement: a clinical dilemma

BackgroundIntravascular lymphoma is a rare type of non-Hodgkin lymphoma mostly of B-cell lineage. A few cases of intravascular lymphoma have been found to be of NK/T-cell origin, mainly affecting the skin and central nervous system.Case presentationA 54-year-old Caucasian man sought care because of a 2 weeks history of jaundice and intermittent fever, not responsive to antibiotics and antipyretics. Laboratory tests showed low blood oxygen concentration and pancytopenia. Serum microbiological tests were negative. Computerized tomography (CT) scan revealed hepatosplenomegaly and diffuse ground-glass opacities in both lungs without interlobular septal thickening. Despite oxygen therapy, the clinical conditions rapidly deteriorated leading to death 3 days after admission. Autopsy revealed a multiorgan involvement by an Epstein-Barr virus positive NK/T-cell lymphoma, strikingly growing within the blood vessel lumina, in absence of skin lesions.ConclusionsThe current case highlights the pathological features of this rare entity, the protean clinical presentation of which is often misleading, resulting in delayed diagnosis and treatment.

Transdermal diffusion of xenon from lipophilic solution of capric triglyceride and from water

Aim: The purpose of the study was to characterize transdermal delivery of xenon through rat skin from a lipophilic solution and from water. Methods: Sections of skin were obtained from adult rats (n=12) and were placed into static Franz diffusion cells for 24 h. Xenon diffusion coefficients were determined for diffusion from a lipophilic solution (n=6) and from water (n=6) to phosphate buffered saline (PBS) through skin and for diffusion from a lipophilic solution to PBS through a phase boundary in the absence of skin (n=6). Results: Xenon flux (JXe) through skin from the lipophilic solution was 0.036 mg/hour×cm2 and permeability coefficient (Kp) was 0.003 cm/h; JXe through skin from water was 0.029 mg/h×cm2 and the Kp was 0.002 cm/h. Total time for xenon diffusion through skin from lipophilic solution and from water was ~2 h. Conclusion: The study presents the first characterization of xenon diffusion through rat skin from multiphase solutions to PBS. These data may be useful for the development of xenon-rich pharmaceutical products for external use.