Cutis verticis gyrata in a patient with acromegaly: an unusual case and review of literature.

Acromegaly is a rare systemic syndrome induced by the overproduction of growth hormone (GH) and insulin-like growth factor type one (IGF1). It is responsible for changes in the skeletal and soft tissue systems and it almost always occurs because of a pituitary adenoma. Amongst the skin complications related to acromegaly, cutis verticis gyrate (CVG) is occasionally found. It is a skin condition characterized by excessive growth of the skin of the scalp, resulting in furrows and folds. Only a few cases of this uncommon association have been reported in the literature. The present clinical case illustrates typical CVG associated with acromegaly. Imaging revealed a pituitary macroadenoma lesion and hormonal evaluation revealed elevated IGF1 and hypopituitarism. The patient underwent a transsphenoidal resection of the pituitary adenoma and the histopathological examination confirmed the diagnosis. The diagnosis of CVG is clinical, so radiologic assessments are generally not necessary. The management of acromegaly associated with CVG depends on controlling the serum levels of GH and IGF1. In some cases, specific injections or surgery can be used to minimize CVG.

Pyogenic granuloma of the scalp arising from a retained bullet fragment after a contralateral skull-penetrating gunshot wound.

Pyogenic granulomas are benign lesions commonly found on the skin and mucosal surfaces. Although the etiology of pyogenic granuloma is not well understood, some reports have suggested that PG may be caused by impaired wound healing following tissue injury. Rare cases of pyogenic granulomas in the setting of local foreign body have been reported in the literature. Although foreign body reactions have not been identified as a cause of pyogenic granuloma, these reports evidence the need to further investigate this association. We present a 33-year-old man who presented with a pyogenic granuloma on the scalp six years after a contralateral skull-penetrating gunshot wound that resulted in retained bullet fragments.

Localized pemphigus vulgaris on scalp: an atypical presentation.

We present two middle-aged patients with pruritic, crusted scalp erosions. Skin biopsy showed epidermal acantholysis with IgG and C3 intercellular deposits on direct immunofluorescence, leading to the diagnosis of localized pemphigus vulgaris. Resolution of the lesions without relapse occurred after low doses of oral prednisone and intralesional triamcinolone acetonide.

Characterization of a New Variant in ARHGAP31 Probably Involved in Adams-Oliver Syndrome in a Family with a Variable Phenotypic Spectrum.

Adams-Oliver syndrome is a rare inherited condition characterized by scalp defects and limb abnormalities. It is caused by variants in different genes such as ARHGAP31. Here, we used an interdisciplinary approach to study a family with lower limb anomalies. We identified a novel variant in the ARHGAP31 gene that is predicted to result in a truncated protein with a constitutively activated catalytic site due to the loss of 688 amino acids involved in the C-terminal domain, essential for protein auto-inhibition. Pathogenic variants in ARHGAP31 exon 12, leading to a premature protein termination, are associated with Adams-Oliver syndrome. Bioinformatic analysis was useful to elucidate the impact of the identified genetic variant on protein structure. To better understand the impact of the identified variant, 3D protein models were predicted for the ARHGAP31 wild type, the newly discovered variant, and other pathogenetic alterations already reported. Our study identified a novel variant probably involved in Adams-Oliver syndrome and increased the evidence on the phenotypic variability in patients affected by this syndrome, underlining the importance of translational research, including experimental and bioinformatics analyses. This strategy represents a successful model to investigate molecular mechanisms involved in syndrome occurrence.

Red Nodule on the Scalp in a Healthy Young Man.

A man in his 40s was referred for an 8-mm red, firm, mobile nodule with irregular red lacunae and vessels and an absence of septa. What is your diagnosis?

Cutis verticis gyrata associated with congenital heart disease.

Cutis verticis gyrata (CVG) is a very rare benign disorder characterised by convoluted folds and deep furrows of the scalp that mimic cerebral sulci and gyri. Associations with other pathologies as neuropsychiatric and/or ophthalmologic disorders, secondary cases to inflammatory or neoplastic processes, as well as cases associated to genetic disorders as Turner's syndrome have been reported, but there is no literature describing an association with a congenital structural heart defect and no other underlying condition. We report a case of primary CVG in a 3-week-old female infant associated with an echocardiographic diagnosis of cor triatriatum. Other systemic examination findings and investigations were unremarkable, and the patient has normal neurodevelopment at 1 year old. Aside from the neuropsychiatric and ophthalmologic pathologies commonly associated with primary non-essential CVG, it should be noted that isolated congenital cardiac lesions are also possible, so as to increase our index of suspicion in patients with the disorder.

Erosive pustular dermatosis of the scalp secondary to Erlotinib: A rare occurrence with trichoscopic perspective.

Epidermal growth factor receptor inhibitors are anti-tumour agents that are frequently used for the treatment of neoplastic disorders. In addition to their cutaneous adverse effects, these drugs can rarely lead to erosive pustular dermatosis of the scalp. We report a case of a 67-year-old female who developed erosive pustular dermatosis of the scalp after being started on erlotinib from a trichoscopic perspective, which has been described in literature only once till now.

Atypical pediatric presentation of alopecic and aseptic nodules of the scalp with features of dissecting cellulitis.

Alopecic and aseptic nodules of the scalp (AANS) and dissecting cellulitis of the scalp (DCS) are rare, closely related conditions of young men that exclusively affect the hair-bearing scalp. We describe a 9-year-old boy who presented with a 6-year history of chronically relapsing, sterile, partially scarring nodules of the scalp and facial skin. Histopathology revealed mixed inflammatory infiltrates consisting of neutrophils, macrophages, lymphocytes, and plasma cells in the deep dermis, consistent with the morphological pattern of suppurative, partly granulomatous dermatitis. The present atypical case is characterized by prepubertal onset and facial involvement which, to our knowledge, has not yet been described before, may be included in the spectrum of "typical" AANS and "typical" DCS.

Treatment of erosive pustular dermatosis of the scalp: our experience and review of unconventional topical drugs.

BACKGROUND: Erosive pustular dermatosis of the scalp (EPDS) is a rare inflammatory disorder of elderly individuals, characterized by relapsing pustular and eroded lesions of the scalp, which may lead to scarring alopecia. Treatment is challenging and classically based on topical and/or oral corticosteroids. CASE REPORT: From 2008 to 2022, we treated fifteen cases of EPDS. We used mainly topical and systemic steroids with good results. Nevertheless, several non-steroidal topical drugs have been described in literature for the treatment of EPDS. We have carried out a brief review of these treatments. CONCLUSIONS: Topical calcineurin inhibitors represent a valuable alternative to steroids to avoid skin atrophy. Emerging evidence about other topical treatments, such as calcipotriol, dapsone, zinc oxide, together with photodynamic therapy, are evaluated in our review.

Cutaneous squamous cell carcinoma in an autosomal-recessive Adams-Oliver syndrome patient with a novel frameshift pathogenic variant in the EOGT gene.

Aplasia cutis congenita (ACC) of the scalp and terminal transverse limb defects (TTLD) are the characteristic findings of Adams-Oliver syndrome (AOS). The variable clinical spectrum further includes cardiac, neurologic, renal, and ophthalmological findings. Associated genes in AOS are in the Notch and the CDC42/Rac1 signaling pathways. Both autosomal-dominant and autosomal-recessive inheritances have been reported, the latter with pathogenic variants in DOCK6 or EOGT. The EOGT-associated recessive type of AOS has been postulated to present a more favorable prognosis. We here report a 12-year-old girl from a refugee family of Iraq with consanguineous parents. She was born with a severe phenotype of AOS presenting a large ACC of the scalp with an underlying skull defect, which was often infected and inflamed. Afterward, additional ulceration developed. Furthermore, the girl showed microcephaly, TTLD on both hands and feet, and neurological findings: spastic paresis, epilepsy and suspicion of intellectual deficit. Molecular genetic analysis (next-generation sequencing) revealed a novel frameshift mutation in the EOGT gene in Exon 13 in homozygous constellation: c.1013dupA p.(Asn338Lysfs*24). A biopsy within an ulceration at the scalp ACC showed a cutaneous squamous cell carcinoma (cSCC) with local invasive growth into the dura, the meninges, and the cortex. Treatment including surgical resection and focal irradiation was not curative and the girl deceased 6 months after initial diagnosis. This report on a patient with AOS and an autosomal-recessive EOGT gene variant dying of a local aggressive cSCC at an ACC lesion shows that close monitoring of ACC is essential.